Gephebase

Gephebase Search Results

This Summary Table shows only the major fields for each entry. If you are interested in other fields (gene synonyms, GO terms, molecular details of the mutation, comments, etc.), please export the .csv file, which contains the complete data for each entry. Please click on a GepheID if you want to see all information regarding a particular entry.

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Your research retrieved 178 results.

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Gene	Trait	Mutation	Taxon B	Taxonomic Status	Evidence	Main Reference	Gephe ID	UniProtKB	Trait Category	Mutation Details	Taxon A	Taxon B	Edit Gene-GePhe	Taxon B	Status
ABCC11	Apocrine secretion (ear wax type ; axillary odor)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Yoshiura K; Kinoshita A; Ishida T ; et al. (2006) A SNP in the ABCC11 gene is the determinant of human earwax type. 1 Additional References Martin A; Saathoff M; Kuhn F (2010) A functional ABCC11 allele is essential in the biochemical formation of human axillary odor.	GP00000010	ABCC11 Q96J66	Physiology	1 a.a. polymorphism considered best candidate - c.538G>A - G180R in the ATP-binding cassette	Homo sapiens human - (species)	Homo sapiens human - (species)	ABCC11	Homo sapiens human - (species)	Published - Accepted by Curator
ABO histo blood group glycosyltransferase	ABO antigen blood type	Coding, Deletion N	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Yamamoto F; Hakomori S (1990) Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...] 1 Additional References Calafell F; Roubinet F; Ramírez-Soriano A (2008) Evolutionary dynamics of the human ABO gene.	GP00000019	ABO P16442	Physiology	1bp deletion (258G) resulting in frameshift N	Homo sapiens human - (species)	Homo sapiens human - (species) D	ABO histo blood group glycosyltransferase	Homo sapiens human - (species)	Published - Accepted by Curator
ABO histo blood group glycosyltransferase	ABO antigen blood type	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Yamamoto F; McNeill PD; Yamamoto M ; et al. (1993) Molecular genetic analysis of the ABO blood group system: 4. Another type of O allele. 1 Additional References Yazer MH; Hosseini-Maaf B; Olsson ML (2008) Blood grouping discrepancies between ABO genotype and phenotype caused by O alleles.	GP00000020	ABO P16442	Physiology	Arg176+Gly268 (group A) <-> Gly176+Arg268 (group O03 = weak AB allele rather than complete loss-of-function) two nucleotide substitutions at nt. 526 and nt. 802. The authors have not examined whether both amino acid substitutions are necessary to disrupt the enzymatic activity or if one of them is sufficient. Nevertheless they assume that the single amino acid substitution at aa. 268 (glycine+arginine) may be crucial for their nullifying effect.	Homo sapiens human - (species)	Homo sapiens human - (species)	ABO histo blood group glycosyltransferase	Homo sapiens human - (species)	Published - Accepted by Curator
ABO histo blood group glycosyltransferase	ABO antigen blood type	Coding, Insertion N	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Hosseini-Maaf B; Irshaid NM; Hellberg A ; et al. (2005) New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes. 1 Additional References Yazer MH; Hosseini-Maaf B; Olsson ML (2008) Blood grouping discrepancies between ABO genotype and phenotype caused by O alleles.	GP00000021	ABO P16442	Physiology	1bp insertion resulting in premature stop codon N	Homo sapiens human - (species)	Homo sapiens human - (species) D	ABO histo blood group glycosyltransferase	Homo sapiens human - (species)	Published - Accepted by Curator
ABO histo blood group glycosyltransferase	ABO antigen blood type	Coding, SNP N	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Hosseini-Maaf B; Irshaid NM; Hellberg A ; et al. (2005) New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes. 1 Additional References Yazer MH; Hosseini-Maaf B; Olsson ML (2008) Blood grouping discrepancies between ABO genotype and phenotype caused by O alleles.	GP00000022	ABO P16442	Physiology	1bp change resulting in stop codon N	Homo sapiens human - (species)	Homo sapiens human - (species)	ABO histo blood group glycosyltransferase	Homo sapiens human - (species)	Published - Accepted by Curator
ADAMTS10	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lettre G (2011) Recent progress in the study of the genetics of height.	GP00000050	ADAMTS10 Q9H324	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	ADAMTS10	Homo sapiens human - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (skin; hair)	Cis-regulatory, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Bonilla C; Boxill LA; Donald SA ; et al. (2005) The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with dar[...] 2 Additional References Sulem P; Gudbjartsson DF; Stacey SN (2008) Two newly identified genetic determinants of pigmentation in Europeans. Voisey J; Gomez-Cabrera Mdel C; Smit DJ (2006) A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA.	GP00000070	Asip Q03288	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	Agouti (ASIP)	Homo sapiens human - (species)	Published - Accepted by Curator
agrecan	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lettre G (2011) Recent progress in the study of the genetics of height.	GP00000072	ACAN P16112	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	agrecan	Homo sapiens human - (species)	Published - Accepted by Curator
alcohol dehydrogenase (ADH1B)	Xenobiotic resistance (alcohol)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Li H; Mukherjee N; Soundararajan U ; et al. (2007) Geographically separate increases in the frequency of the derived ADH1B47His allele in eastern and [...] 1 Additional References Li H; Mukherjee N; Soundararajan U (2007)* Geographically separate increases in the frequency of the derived ADH1B*47His allele in eastern and [...]	GP00000077	ADH1B P00325	Physiology	Arg47His; the derived allele results in 100-fold enzymatic rate increase and shows signs of positive selection in correlation with history of rice domestication	Homo sapiens human - (species)	Homo sapiens human - (species) D	alcohol dehydrogenase (ADH1B)	Homo sapiens human - (species)	Published - Accepted by Curator
AMPD1 [clinical; candidate gene study; added for insights on fly-human parallelism]	Drug resistance	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Wessels JA; van der Kooij SM; le Cessie S ; et al. (2007) A clinical pharmacogenetic model to predict the efficacy of methotrexate monotherapy in recent-onset[...]	GP00000084	AMPD1 P23109	Physiology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	AMPD1 [clinical; candidate gene study; added for insights on fly-human parallelism]	Homo sapiens human - (species)	Published - Accepted by Curator
amylase 1 (AMY1)	Starch processing	Gene Amplification, Insertion	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Perry GH; Dominy NJ; Claw KG ; et al. (2007) Diet and the evolution of human amylase gene copy number variation. 2 Additional References Falchi M; El-Sayed Moustafa JS; Takousis P (2014) Low copy number of the salivary amylase gene predisposes to obesity. Pajic P; Pavlidis P; Dean K (2019) Independent amylase gene copy number bursts correlate with dietary preferences in mammals.	GP00000085	AMY1A P04745	Physiology	Probably gene duplication	Homo sapiens human - (species)	Homo sapiens human - (species) D	amylase 1 (AMY1)	Homo sapiens human - (species)	Published - Accepted by Curator
APOE (apolipoprotein E)	Aging	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Joshi PK; Fischer K; Schraut KE ; et al. (2016) Variants near CHRNA3/5 and APOE have age- and sex-related effects on human lifespan.	GP00000099	APOE P02649	Physiology	Cys112Arg	Homo sapiens human - (species)	Homo sapiens human - (species)	APOE (apolipoprotein E)	Homo sapiens human - (species)	Published - Accepted by Curator
AR	Sensory vibrissae (loss) Penile spine (loss)	Cis-regulatory, Deletion	Homo sapiens human - (species) D	Interspecific	Candidate Gene	McLean CY; Reno PL; Pollen AA ; et al. (2011) Human-specific loss of regulatory DNA and the evolution of human-specific traits.	GP00000102	AR P10275	Morphology Morphology	Enhancer loss	Pan troglodytes chimpanzee - (species)	Homo sapiens human - (species) D	AR	Homo sapiens human - (species)	Published - Accepted by Curator
ARHGAP11B	Neocortex development (basal progenitor amplification)	Coding, SNP N	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Florio M; Namba T; Pääbo S ; et al. (2016) A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification.	GP00001442	ARHGAP11B Q3KRB8	Morphology	c.661C>G new splice site mutation removing 55nt from exon 5 truncating a GAP domain N	Homo sapiens human - (species)	Homo sapiens human - (species) D	ARHGAP11B	Homo sapiens human - (species)	Published - Accepted by Curator
ARHGEF3	Hematopoiesis (mean blood platelet volume & blood platelet count)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]	GP00001605	ARHGEF3 Q9NR81	Physiology	T>C at the associated SNP that disrupts a conserved GATA motif. This variant overlaps with a common-myeloid progenitor (CMP-) and megakaryocyte-erythroid progenitor (MEP-) specific regulatory element that affects the transcription of ARHGEF3	Homo sapiens human - (species)	Homo sapiens human - (species)	ARHGEF3	Homo sapiens human - (species)	Published - Accepted by Curator
ATP2B4	Pathogen resistance (Plasmodium; malaria parasite)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Timmann C; Thye T; Vens M ; et al. (2012) Genome-wide association study indicates two novel resistance loci for severe malaria.	GP00000127	ATP2B4 P23634	Physiology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	ATP2B4	Homo sapiens human - (species)	Published - Accepted by Curator
ATP4B	Digestion (absence of stomach)	3 Mutations: Coding N	Ornithorhynchus anatinus platypus - (species) D	Intergeneric or Higher	Candidate Gene	Ordoñez GR; Hillier LW; Warren WC ; et al. (2008) Loss of genes implicated in gastric function during platypus evolution.	GP00001909	ATP4B P51164	Physiology	3 mutations	Monodelphis domestica gray short-tailed opossum - (species) Homo sapiens human - (species)	Ornithorhynchus anatinus platypus - (species) D	ATP4B	Ornithorhynchus anatinus platypus - (species)	Published - Accepted by Curator
ATXN1	Body fat distribution (attenuation)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Chu AY; Deng X; Fisher VA ; et al. (2017) Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]	GP00001552	ATXN1 P54253	Physiology	A>G in associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	ATXN1	Homo sapiens human - (species)	Published - Accepted by Curator
BAK1	Hematopoiesis (blood platelet count)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]	GP00001616	BAK1 Q16611	Physiology	A>G at the associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	BAK1	Homo sapiens human - (species)	Published - Accepted by Curator
BHLHE41	Hypoxia response	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Huerta-Sánchez E; Degiorgio M; Pagani L ; et al. (2013) Genetic signatures reveal high-altitude adaptation in a set of ethiopian populations.	GP00000144	BHLHE41 Q9C0J9	Physiology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	BHLHE41	Homo sapiens human - (species)	Published - Accepted by Curator
catechol-O-methyltransferase (COMT)	Pain sensitivity	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Nackley AG; Shabalina SA; Tchivileva IE ; et al. (2006) Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary[...]	GP00000171	COMT P21964	Behavior	G/C - The synonymous mutation(s) affect mRNA stability and loop structures	Homo sapiens human - (species)	Homo sapiens human - (species)	catechol-O-methyltransferase (COMT)	Homo sapiens human - (species)	Published - Accepted by Curator
cathepsin E	Digestion (absence of stomach)	2 Mutations: Coding N	Ornithorhynchus anatinus platypus - (species) D	Intergeneric or Higher	Candidate Gene	Ordoñez GR; Hillier LW; Warren WC ; et al. (2008) Loss of genes implicated in gastric function during platypus evolution.	GP00001910	CTSE P14091	Physiology	2 mutations	Monodelphis domestica gray short-tailed opossum - (species) Homo sapiens human - (species)	Ornithorhynchus anatinus platypus - (species) D	cathepsin E	Ornithorhynchus anatinus platypus - (species)	Published - Accepted by Curator
CCAAT-enhancer-binding protein alpha (CEBPA)	Hematopoiesis (blood basophil count)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]	GP00001603	CEBPA P49715	Physiology	C>T at the associated SNP which resides 39kb dowstream from CEBPA near a separate enhancer that influences CEBPA expression along various myeloid lineages. T allele was associated with a 28.6% reduction in enhancer activity.	Homo sapiens human - (species)	Homo sapiens human - (species)	CCAAT-enhancer-binding protein alpha (CEBPA)	Homo sapiens human - (species)	Published - Accepted by Curator
CCL3L1	Pathogen resistance (HIV)	Gene Amplification, Indel	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Gonzalez E; Kulkarni H; Bolivar H ; et al. (2005) The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility.	GP00000177	CCL3L1 P16619	Physiology	Copy number Variant	Homo sapiens human - (species)	Homo sapiens human - (species) D	CCL3L1	Homo sapiens human - (species)	Published - Accepted by Curator
CHRNA3/5 nicotine receptor cluster	Aging Smoking behavior	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Joshi PK; Fischer K; Schraut KE ; et al. (2016) Variants near CHRNA3/5 and APOE have age- and sex-related effects on human lifespan.	GP00000185	CHRNA3 P32297	Physiology Physiology	unknown; complex variation with SNP association signal	Homo sapiens human - (species)	Homo sapiens human - (species)	CHRNA3/5 nicotine receptor cluster	Homo sapiens human - (species)	Published - Accepted by Curator
CREBRF	Body size (obesity)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Minster RL; Hawley NL; Su CT ; et al. (2016) A thrifty variant in CREBRF strongly influences body mass index in Samoans.	GP00001444	CREBRF Q8IUR6	Morphology	c.1370G>A p.Arg457Gln	Homo sapiens human - (species)	Homo sapiens human - (species) D	CREBRF	Homo sapiens human - (species)	Published - Accepted by Curator
CYP1A2	Enzymatic activity	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Murayama N; Soyama A; Saito Y ; et al. (2004) Six novel nonsynonymous CYP1A2 gene polymorphisms: catalytic activities of the naturally occurring v[...]	GP00000199	CYP1A2 P05177	Physiology	F186L	Homo sapiens human - (species)	Homo sapiens human - (species) D	CYP1A2	Homo sapiens human - (species)	Published - Accepted by Curator
CYP2C9	Xenobiotic resistance (anti-coagulant drug response)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Takeuchi F; McGinnis R; Bourgeois S ; et al. (2009) A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinant[...] 1 Additional References Cha PC; Mushiroda T; Takahashi A (2010) Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanes[...]	GP00000200	CYP2C9 P11712	Physiology	I359L	Homo sapiens human - (species)	Homo sapiens human - (species)	CYP2C9	Homo sapiens human - (species)	Published - Accepted by Curator
CYP4F2	Xenobiotic resistance (anti-coagulant drug response)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Takeuchi F; McGinnis R; Bourgeois S ; et al. (2009) A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinant[...] 1 Additional References Cha PC; Mushiroda T; Takahashi A (2010) Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanes[...]	GP00000203	CYP4F2 P78329	Physiology	V433M	Homo sapiens human - (species)	Homo sapiens human - (species)	CYP4F2	Homo sapiens human - (species)	Published - Accepted by Curator
DC-STAMP domain containing 2 (DCST2)	Body size	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	van der Valk RJ; Kreiner-Møller E; Kooijman MN ; et al. (2015) A novel common variant in DCST2 is associated with length in early life and height in adulthood.	GP00001509	DCST2 Q5T1A1	Morphology	SNP rs905938 C allele associated with an increase in birth length but probably not the causative mutation	Homo sapiens human - (species)	Homo sapiens human - (species)	DC-STAMP domain containing 2 (DCST2)	Homo sapiens human - (species)	Published - Accepted by Curator
DDB1	Resistance to UV irradiation (sun exposure to skin)	Cis-regulatory, Complex Change	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Crawford NG; Kelly DE; Hansen MEB ; et al. (2017) Loci associated with skin pigmentation identified in African populations.	GP00001363	DDB1 Q16531	Morphology	most strongly associated SNPs are located in a region conserved across vertebrates flanked by TMEM138 and TMEM216 ~36 to 44 kb upstream of DDB1 and in high LD ; includes rs7948623 located 172 bp downstream of TMEM138 which shows enhancer activity in melanoma cells and interacts with the promoters of DDB1	Homo sapiens human - (species)	Homo sapiens human - (species) D	DDB1	Homo sapiens human - (species)	Published - Accepted by Curator
Duffy	Pathogen resistance (Plasmodium; malaria parasite) (malaria)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Tournamille C; Colin Y; Cartron JP ; et al. (1995) Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-n[...]	GP00000240	ACKR1 Q16570	Physiology	T to C substitution in 5' region at pos -46	Homo sapiens human - (species)	Homo sapiens human - (species)	Duffy	Homo sapiens human - (species)	Published - Accepted by Curator
DYM	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lettre G (2011) Recent progress in the study of the genetics of height.	GP00000242	DYM Q7RTS9	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	DYM	Homo sapiens human - (species)	Published - Accepted by Curator
EBF1	Body fat distribution (pericardial)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Chu AY; Deng X; Fisher VA ; et al. (2017) Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]	GP00001554	EBF1 Q9UH73	Physiology	A>G & T>G in 2 associated SNPs	Homo sapiens human - (species)	Homo sapiens human - (species)	EBF1	Homo sapiens human - (species)	Published - Accepted by Curator
EDAR	Hair thickness Eccrine gland density Ear traits = lobe size / lobe attachment / helix rolling / ear protrusion Tooth morphology (shovel-shaped incisors)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Fujimoto A; Kimura R; Ohashi J ; et al. (2008) A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickne[...] 4 Additional References Kamberov YG; Wang S; Tan J (2013) Modeling recent human evolution in mice by expression of a selected EDAR variant. Adhikari K; Reales G; Smith AJ (2015) A genome-wide association study identifies multiple loci for variation in human ear morphology. Park JH; Yamaguchi T; Watanabe C (2012) Effects of an Asian-specific nonsynonymous EDAR variant on multiple dental traits. Kimura R; Yamaguchi T; Takeda M (2009) A common variation in EDAR is a genetic determinant of shovel-shaped incisors.	GP00000256	EDAR Q9UNE0	Morphology Morphology Morphology Morphology	p.Val370Ala; functionally validated in mouse	Homo sapiens human - (species)	Homo sapiens human - (species) D	EDAR	Homo sapiens human - (species)	Published - Accepted by Curator
EGFR	Coloration (skin)	Unknown, Unknown	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Quillen EE; Bauchet M; Bigham AW ; et al. (2012) OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and European[...]	GP00001537	EGFR P00533	Morphology	A>T associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species) D	EGFR	Homo sapiens human - (species)	Published - Accepted by Curator
EGLN1	Hypoxia response	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Simonson TS; Yang Y; Huff CD ; et al. (2010) Genetic evidence for high-altitude adaptation in Tibet. 3 Additional References Bigham A; Bauchet M; Pinto D (2010) Identifying signatures of natural selection in Tibetan and Andean populations using dense genome sca[...] Xu S; Li S; Yang Y (2011) A genome-wide search for signals of high-altitude adaptation in Tibetans. Xiang K; Ouzhuluobu ; Peng Y (2013) Identification of a Tibetan-specific mutation in the hypoxic gene EGLN1 and its contribution to high[...]	GP00000261	EGLN1 Q9GZT9	Physiology	possibly D4E	Homo sapiens human - (species)	Homo sapiens human - (species) D	EGLN1	Homo sapiens human - (species)	Published - Accepted by Curator
EGLN1	Hypoxia response	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Bigham A; Bauchet M; Pinto D ; et al. (2010) Identifying signatures of natural selection in Tibetan and Andean populations using dense genome sca[...]	GP00000262	EGLN1 Q9GZT9	Physiology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	EGLN1	Homo sapiens human - (species)	Published - Accepted by Curator
EIF2AK3	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lettre G (2011) Recent progress in the study of the genetics of height.	GP00000264	EIF2AK3 Q9NZJ5	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	EIF2AK3	Homo sapiens human - (species)	Published - Accepted by Curator
EIF2S2	Coloration (skin)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Liu F; Visser M; Duffy DL ; et al. (2015) Genetics of skin color variation in Europeans: genome-wide association studies with functional follo[...]	GP00001359	EIF2S2 P20042	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	EIF2S2	Homo sapiens human - (species)	Published - Accepted by Curator
ENSA	Body fat distribution (pericardial)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Chu AY; Deng X; Fisher VA ; et al. (2017) Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]	GP00001558	ENSA O43768	Physiology	A>G in associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	ENSA	Homo sapiens human - (species)	Published - Accepted by Curator
EPAS1	Hypoxia response	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Simonson TS; Yang Y; Huff CD ; et al. (2010) Genetic evidence for high-altitude adaptation in Tibet. 1 Additional References Xu S; Li S; Yang Y (2011) A genome-wide search for signals of high-altitude adaptation in Tibetans.	GP00000274	EPAS1 Q99814	Physiology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	EPAS1	Homo sapiens human - (species)	Published - Accepted by Curator
F2RL2	Hematopoiesis (mean blood platelet volume)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]	GP00001617	F2RL2 O00254	Physiology	A>T at the associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	F2RL2	Homo sapiens human - (species)	Published - Accepted by Curator
FAAH	Anxiety (fear reduction)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Dincheva I; Drysdale AT; Hartley CA ; et al. (2015) FAAH genetic variation enhances fronto-amygdala function in mouse and human.	GP00000301	Faah P97612	Behavior	Pro129Thr (C385A; common variant rs324420)	Homo sapiens human - (species)	Homo sapiens human - (species)	FAAH	Homo sapiens human - (species)	Published - Accepted by Curator
FGFR2	Hair thickness	Cis-regulatory, Unknown	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Fujimoto A; Nishida N; Kimura R ; et al. (2009) FGFR2 is associated with hair thickness in Asian populations.	GP00000314	FGFR2 P21802	Morphology	Unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	FGFR2	Homo sapiens human - (species)	Published - Accepted by Curator
FoxP2	Gene expression change (transcriptional targets)	Coding, SNP	Homo sapiens human - (species) D	Interspecific	Candidate Gene	Konopka G; Bomar JM; Winden K ; et al. (2009) Human-specific transcriptional regulation of CNS development genes by FOXP2. 1 Additional References Schreiweis C; Bornschein U; Burguière E (2014) Humanized Foxp2 accelerates learning by enhancing transitions from declarative to procedural perform[...]	GP00000353	FOXP2 O15409	Behavior	2 aa changes (T303N and N325S) resulting in changes of the regulated transcriptional targets in a human neuron cell line. Speculatively; these changes could be associated with language skills but these connections with null-mutant phenotypes are dubious - whether one or both mutations are required is unknown	Pan troglodytes chimpanzee - (species)	Homo sapiens human - (species) D	FoxP2	Homo sapiens human - (species)	Published - Accepted by Curator
FRIZZLED8	Neocortex development	Cis-regulatory, Unknown	Homo sapiens human - (species) D	Interspecific	Candidate Gene	Boyd JL; Skove SL; Rouanet JP ; et al. (2015) Human-chimpanzee differences in a FZD8 enhancer alter cell-cycle dynamics in the developing neocorte[...]	GP00001443	FZD8 Q9H461	Morphology	10 mutations fixed on the human branch in the Hs-HARE5 genomic locus resulting in enhancer activity in developing neocortex	Pan troglodytes chimpanzee - (species)	Homo sapiens human - (species) D	FRIZZLED8	Homo sapiens human - (species)	Published - Accepted by Curator
FTO	Body size (weight; variance)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Frayling TM; Timpson NJ; Weedon MN ; et al. (2007) A common variant in the FTO gene is associated with body mass index and predisposes to childhood and[...] 4 Additional References Dina C; Meyre D; Gallina S (2007) Variation in FTO contributes to childhood obesity and severe adult obesity. Scuteri A; Sanna S; Chen WM (2007) Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-rela[...] Yang J; Loos RJ; Powell JE (2012) FTO genotype is associated with phenotypic variability of body mass index. Claussnitzer M; Dankel SN; Kim KH (2015) FTO Obesity Variant Circuitry and Adipocyte Browning in Humans.	GP00000378	FTO Q9C0B1	Morphology; Physiology	rs1421085 T-to-C single-nucleotide variant disrupts a conserved motif for the ARID5B repressor	Homo sapiens human - (species)	Homo sapiens human - (species)	FTO	Homo sapiens human - (species)	Published - Accepted by Curator
FTO	Body fat distribution (subcutaneous)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Chu AY; Deng X; Fisher VA ; et al. (2017) Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]	GP00001560	FTO Q9C0B1	Physiology	A>G in associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	FTO	Homo sapiens human - (species)	Published - Accepted by Curator
FUT2	ABO antigen blood type	Coding, Deletion N	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Kelly RJ; Rouquier S; Giorgi D ; et al. (1995) Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...] 1 Additional References Pang H; Fujitani N; Soejima M (2000) Two distinct Alu-mediated deletions of the human ABO-secretor (FUT2) locus in Samoan and Bangladeshi[...]	GP00000379	FUT2 Q10981	Physiology	9.3 kb deletion mediated by recombination between Alu sequences N	Homo sapiens human - (species)	Homo sapiens human - (species) D	FUT2	Homo sapiens human - (species)	Published - Accepted by Curator
FUT2	ABO antigen blood type	Coding, Deletion N	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Kelly RJ; Rouquier S; Giorgi D ; et al. (1995) Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...] 2 Additional References Pang H; Fujitani N; Soejima M (2000) Two distinct Alu-mediated deletions of the human ABO-secretor (FUT2) locus in Samoan and Bangladeshi[...] Koda Y; Soejima M; Johnson PH (2000) An Alu-mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype.	GP00000380	FUT2 Q10981	Physiology	10 kb deletion mediated by recombination between Alu sequences N	Homo sapiens human - (species)	Homo sapiens human - (species) D	FUT2	Homo sapiens human - (species)	Published - Accepted by Curator
FUT2	ABO antigen blood type	Coding, SNP N	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Kelly RJ; Rouquier S; Giorgi D ; et al. (1995) Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...] 1 Additional References Ferrer-Admetlla A; Sikora M; Laayouni H (2009) A natural history of FUT2 polymorphism in humans.	GP00000381	FUT2 Q10981	Physiology	premature stop at codon 143: TGG>TGA N	Homo sapiens human - (species)	Homo sapiens human - (species)	FUT2	Homo sapiens human - (species)	Published - Accepted by Curator
FUT2	ABO antigen blood type	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Kelly RJ; Rouquier S; Giorgi D ; et al. (1995) Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...] 1 Additional References Ferrer-Admetlla A; Sikora M; Laayouni H (2009) A natural history of FUT2 polymorphism in humans.	GP00000382	FUT2 Q10981	Physiology	Ile129Phe	Homo sapiens human - (species)	Homo sapiens human - (species)	FUT2	Homo sapiens human - (species)	Published - Accepted by Curator
GADD45G	Brain development	Cis-regulatory, Deletion	Pan troglodytes chimpanzee - (species) D	Interspecific	Association Mapping	McLean CY; Reno PL; Pollen AA ; et al. (2011) Human-specific loss of regulatory DNA and the evolution of human-specific traits.	GP00000384	GADD45G O95257	Morphology	Enhancer loss	Homo sapiens human - (species)	Pan troglodytes chimpanzee - (species) D	GADD45G	Pan troglodytes chimpanzee - (species)	Published - Accepted by Curator
GATA-binding protein 2 (GATA2)	Hematopoiesis (blood basophil count)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]	GP00001610	GATA2 P23769	Physiology	G>A at the associated SNP. Another variant (rs6782812) in a pleiotropic myeloid enhancer near GATA2 reduced enhancer activity by 69%	Homo sapiens human - (species)	Homo sapiens human - (species)	GATA-binding protein 2 (GATA2)	Homo sapiens human - (species)	Published - Accepted by Curator
GDF5	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sanna S; Jackson AU; Nagaraja R ; et al. (2008) Common variants in the GDF5-UQCC region are associated with variation in human height. 1 Additional References Lettre G (2011) Recent progress in the study of the genetics of height.	GP00000387	GDF5 P43026	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	GDF5	Homo sapiens human - (species)	Published - Accepted by Curator
GDF6	Limb morphology (hindlimb;skeleton)	Cis-regulatory, Deletion	Homininae (subfamily) D	Intergeneric or Higher	Candidate Gene	Indjeian VB; Kingman GA; Jones FC ; et al. (2016) Evolving New Skeletal Traits by cis-Regulatory Changes in Bone Morphogenetic Proteins.	GP00000389	GDF6 Q6KF10	Morphology	Loss of a limb specific enhancer, the deletion is 5.6 kb	Homo sapiens human - (species)	Homininae (subfamily) D	GDF6	Homininae (subfamily)	Published - Accepted by Curator
GHSR	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lettre G (2011) Recent progress in the study of the genetics of height.	GP00000394	GHSR Q92847	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	GHSR	Homo sapiens human - (species)	Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)	Pathogen resistance (malaria)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Tishkoff SA; Varkonyi R; Cahinhinan N ; et al. (2001) Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer m[...]	GP00000401	G6PD P11413	Physiology	Ser188Phe C>T	Homo sapiens human - (species)	Homo sapiens human - (species) D	Glucose-6-phosphate dehydrogenase (G6PD)	Homo sapiens human - (species)	Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)	Pathogen resistance (malaria)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Louicharoen C; Patin E; Paul R ; et al. (2009) Positively selected G6PD-Mahidol mutation reduces Plasmodium vivax density in Southeast Asians.	GP00000402	G6PD P11413	Physiology	Ser163Gly	Homo sapiens human - (species)	Homo sapiens human - (species) D	Glucose-6-phosphate dehydrogenase (G6PD)	Homo sapiens human - (species)	Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)	Pathogen resistance (malaria)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Tishkoff SA; Varkonyi R; Cahinhinan N ; et al. (2001) Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer m[...]	GP00000403	G6PD P11413	Physiology	Val68Met G>A at nucleotide position 376 in exon 5 - OMIM code +305900.0002	Homo sapiens human - (species)	Homo sapiens human - (species) D	Glucose-6-phosphate dehydrogenase (G6PD)	Homo sapiens human - (species)	Published - Accepted by Curator
Glucose-dependent insulinotropic polypeptide	Glycemia Adipolysis rate	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Chang CL; Cai JJ; Lo C ; et al. (2011) Adaptive selection of an incretin gene in Eurasian populations.	GP00000404	GIP P09681	Physiology Physiology	Ser103Gly	Homo sapiens human - (species)	Homo sapiens human - (species) D	Glucose-dependent insulinotropic polypeptide	Homo sapiens human - (species)	Published - Accepted by Curator
Glycophorin GYPA-GYPB-GYPE cluster	Pathogen resistance (Plasmodium; malaria parasite)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	; Band G; Rockett KA ; et al. (2015) A novel locus of resistance to severe malaria in a region of ancient balancing selection.	GP00000406	GYPA P02724	Physiology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	Glycophorin GYPA-GYPB-GYPE cluster	Homo sapiens human - (species)	Published - Accepted by Curator
GPR133	Body size (height; male-limited)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Tönjes A; Koriath M; Schleinitz D ; et al. (2009) Genetic variation in GPR133 is associated with height: genome wide association study in the self-con[...]	GP00000412	ADGRD1 Q6QNK2	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	GPR133	Homo sapiens human - (species)	Published - Accepted by Curator
GPRC6A	Cell signaling (membrane receptor activity)	Coding, Insertion	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Jørgensen S; Have CT; Underwood CR ; et al. (2017) Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]	GP00001669	GPRC6A Q5T6X5	Physiology	insertion of KL (6 bp) resulting in sequence KGKKLY in the third intracellular loop (ICL3) with surface expression and function greatly reduced	Homo sapiens human - (species)	Homo sapiens human - (species) D	GPRC6A	Homo sapiens human - (species)	Published - Accepted by Curator
GPRC6A	Cell signaling (membrane receptor activity)	Coding, Deletion	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Jørgensen S; Have CT; Underwood CR ; et al. (2017) Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]	GP00001670	GPRC6A Q5T6X5	Physiology	KGRKLP>KGRK-Y in the third intracellular loop (ICL3) with surface expression and function greatly reduced	Homo sapiens human - (species)	Homo sapiens human - (species) D	GPRC6A	Homo sapiens human - (species)	Published - Accepted by Curator
GPRC6A	Cell signaling (membrane receptor activity)	Coding, Deletion N	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Jørgensen S; Have CT; Underwood CR ; et al. (2017) Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]	GP00001671	GPRC6A Q5T6X5	Physiology	KGRKLP>KGK--Y in the third intracellular loop (ICL3) responsible for the intracellular retention and lack of function N	Homo sapiens human - (species)	Homo sapiens human - (species) D	GPRC6A	Homo sapiens human - (species)	Published - Accepted by Curator
GPRC6A	Cell signaling (membrane receptor activity)	Coding, SNP N	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Jørgensen S; Have CT; Underwood CR ; et al. (2017) Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]	GP00001672	GPRC6A Q5T6X5	Physiology	C>T (aa57) located in the first exon resulting in a premature Stop-codon and non-functional protein N	Homo sapiens human - (species)	Homo sapiens human - (species) D	GPRC6A	Homo sapiens human - (species)	Published - Accepted by Curator
GRAMD3	Body fat distribution (visceral)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Chu AY; Deng X; Fisher VA ; et al. (2017) Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]	GP00001557	GRAMD2B Q96HH9	Physiology	A>C in associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	GRAMD3	Homo sapiens human - (species)	Published - Accepted by Curator
Growth Hormone Receptor (GHR)	Body size (height)	Coding, SNP N	Homo sapiens human - (species)	Intraspecific	Association Mapping	Zoledziewska M; Sidore C; Chiang CWK ; et al. (2015) Height-reducing variants and selection for short stature in Sardinia.	GP00000415	GHR P10912	Morphology	Arg61* N	Homo sapiens human - (species)	Homo sapiens human - (species)	Growth Hormone Receptor (GHR)	Homo sapiens human - (species)	Published - Accepted by Curator
GSDMB	Body fat distribution (subcutaneous)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Chu AY; Deng X; Fisher VA ; et al. (2017) Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]	GP00001556	GSDMB Q8TAX9	Physiology	T>C in associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	GSDMB	Homo sapiens human - (species)	Published - Accepted by Curator
GSS (glutathione synthetase)	Coloration (skin)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Liu F; Visser M; Duffy DL ; et al. (2015) Genetics of skin color variation in Europeans: genome-wide association studies with functional follo[...]	GP00001362	GSS P48637	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	GSS (glutathione synthetase)	Homo sapiens human - (species)	Published - Accepted by Curator
HBS1L-MYB	Hematopoiesis (mean blood corpuscular hemoglobin)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]	GP00001607	HBS1L Q9Y450	Physiology	T>C at the associated SNP. Variants in MEP/erythroid-specific elements are putative functional variants	Homo sapiens human - (species)	Homo sapiens human - (species)	HBS1L-MYB	Homo sapiens human - (species)	Published - Accepted by Curator
HBS1L-MYB	Hematopoiesis (mean blood corpuscular hemoglobin)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]	GP00001608	HBS1L Q9Y450	Physiology	A>G at the associated SNP. Variants in MEP/erythroid-specific elements are putative functional variants	Homo sapiens human - (species)	Homo sapiens human - (species)	HBS1L-MYB	Homo sapiens human - (species)	Published - Accepted by Curator
HBS1L-MYB	Hematopoiesis (red blood cell count)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]	GP00001609	HBS1L Q9Y450	Physiology	C>T at the associated SNP. Variants in MEP/erythroid-specific elements are putative functional variants	Homo sapiens human - (species)	Homo sapiens human - (species)	HBS1L-MYB	Homo sapiens human - (species)	Published - Accepted by Curator
HBS1L-MYB	Hematopoiesis (blood platelet count)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]	GP00001614	HBS1L Q9Y450	Physiology	T>C at the associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	HBS1L-MYB	Homo sapiens human - (species)	Published - Accepted by Curator
hemoglobin; HBA and HBB	Hypoxia response	Coding, SNP	Crocodylus niloticus Nile crocodile - (species)	Intergeneric or Higher	Candidate Gene	Komiyama NH; Miyazaki G; Tame J ; et al. (1995) Transplanting a unique allosteric effect from crocodile into human haemoglobin.	GP00000455	HBA1 P69905	Physiology	No more than 12 amino acid substitutions required for providing crocodile-like properties in engineered human Hb - effect of single amino acid changes not tested	Homo sapiens human - (species)	Crocodylus niloticus Nile crocodile - (species)	hemoglobin; HBA and HBB	Crocodylus niloticus Nile crocodile - (species)	Published - Accepted by Curator
hemoglobin; HBB	Pathogen resistance (Plasmodium; malaria parasite)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Jallow M; Teo YY; Small KS ; et al. (2009) Genome-wide and fine-resolution association analysis of malaria in West Africa.	GP00000466	HBB P68871	Physiology	Glu6Val	Homo sapiens human - (species)	Homo sapiens human - (species) D	hemoglobin; HBB	Homo sapiens human - (species)	Published - Accepted by Curator
HLA-DRB1	Pathogen resistance (typhoid fever)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Dunstan SJ; Hue NT; Han B ; et al. (2014) Variation at HLA-DRB1 is associated with resistance to enteric fever.	GP00000479	HLA-DRB1 Q30167	Physiology	uncharacterized	Homo sapiens human - (species)	Homo sapiens human - (species)	HLA-DRB1	Homo sapiens human - (species)	Published - Accepted by Curator
HMGA2	Body size (height; bone mineral density)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Weedon MN; Lettre G; Freathy RM ; et al. (2007) A common variant of HMGA2 is associated with adult and childhood height in the general population. 3 Additional References Yang TL; Guo Y; Zhang LS (2010) HMGA2 is confirmed to be associated with human adult height. Kuipers A; Zhang Y; Cauley JA (2009) Association of a high mobility group gene (HMGA2) variant with bone mineral density. Horikoshi M; Yaghootkar H; Mook-Kanamori DO (2013) New loci associated with birth weight identify genetic links between intrauterine growth[...]	GP00000486	HMGA2 P52926	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	HMGA2	Homo sapiens human - (species)	Published - Accepted by Curator
Human Leukocyte Antigen-B (HLA-B)	Pathogen resistance (HIV control)	5 Mutations: Coding SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	; Pereyra F; Jia X ; et al. (2010) The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.	GP00000492	HLA-B P01889	Physiology	5 mutations	Homo sapiens human - (species)	Homo sapiens human - (species)	Human Leukocyte Antigen-B (HLA-B)	Homo sapiens human - (species)	Published - Accepted by Curator
IL4	Immune response	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Linkage Mapping	Rockman MV; Hahn MW; Soranzo N ; et al. (2003) Positive selection on a human-specific transcription factor binding site regulating IL4 expression.	GP00000497	IL4 P05112	Physiology	_524T promoter single base-pair substitution affecting binding of the NFAT transcription factor	Homo sapiens human - (species)	Homo sapiens human - (species)	IL4	Homo sapiens human - (species)	Published - Accepted by Curator
Insulin-like growth factor receptor 1 (IGF1R)	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lettre G (2011) Recent progress in the study of the genetics of height.	GP00000503	IGF1R P08069	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	Insulin-like growth factor receptor 1 (IGF1R)	Homo sapiens human - (species)	Published - Accepted by Curator
Insulin-like growth factor receptor 1 (IGF1R)	Body size (weight)	Coding, SNP	Homo sapiens human - (species) D	Domesticated	Candidate Gene	Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013) Derived variants at six genes explain nearly half of size reduction in dog breeds.	GP00001479	IGF1R P08069	Morphology	G>A p.R204H in exon 2	Canis lupus gray wolf - (species)	Homo sapiens human - (species) D	Insulin-like growth factor receptor 1 (IGF1R)	Homo sapiens human - (species)	Published - Accepted by Curator
interleukin-4	Immune response	Cis-regulatory, SNP	Homo sapiens human - (species)	Interspecific	Candidate Gene	Rockman MV; Hahn MW; Soranzo N ; et al. (2003) Positive selection on a human-specific transcription factor binding site regulating IL4 expression.	GP00000504	IL4R P24394	Physiology	1bp substitution in promoter	Primates (order)	Homo sapiens human - (species)	interleukin-4	Homo sapiens human - (species)	Published - Accepted by Curator
IRF4	Coloration (skin)	Cis-regulatory, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Praetorius C; Grill C; Stacey SN ; et al. (2013) A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway[...] 1 Additional References Visser M; Palstra RJ; Kayser M (2015) Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping o[...]	GP00001364	IRF4 Q15306	Morphology	a C>T substitution in intron4 located within an enhancer	Homo sapiens human - (species)	Homo sapiens human - (species) D	IRF4	Homo sapiens human - (species)	Published - Accepted by Curator
JAK2	Hematopoiesis (blood platelet count)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]	GP00001613	JAK2 O60674	Physiology	G>A at the associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	JAK2	Homo sapiens human - (species)	Published - Accepted by Curator
JAZF1	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Johansson A; Marroni F; Hayward C ; et al. (2009) Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide assoc[...] 1 Additional References Soranzo N; Rivadeneira F; Chinappen-Horsley U (2009) Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations wi[...]	GP00000507	JAZF1 Q86VZ6	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	JAZF1	Homo sapiens human - (species)	Published - Accepted by Curator
JMJD1C	Hematopoiesis (mean blood platelet volume)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]	GP00001606	JMJD1C Q15652	Physiology	T>A at the associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	JMJD1C	Homo sapiens human - (species)	Published - Accepted by Curator
KCNQ1	Body size (height)	Unknown, Epigenetic Change	Homo sapiens human - (species)	Intraspecific	Association Mapping	Zoledziewska M; Sidore C; Chiang CWK ; et al. (2015) Height-reducing variants and selection for short stature in Sardinia.	GP00000511	KCNQ1 P51787	Morphology	unknown causative change in an imprinted region - consistent with maternal inheritance detected by the association	Homo sapiens human - (species)	Homo sapiens human - (species)	KCNQ1	Homo sapiens human - (species)	Published - Accepted by Curator
Kit ligand	Coloration (coat)	Cis-regulatory, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Miller CT; Beleza S; Pollen AA ; et al. (2007) cis-Regulatory changes in Kit ligand expression and parallel evolution of pigmentation in sticklebac[...] 1 Additional References Sulem P; Gudbjartsson DF; Stacey SN (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans.	GP00000522	KITLG P21583	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	Kit ligand	Homo sapiens human - (species)	Published - Accepted by Curator
Kit ligand	Coloration (hair)	Cis-regulatory, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Guenther CA; Tasic B; Luo L ; et al. (2014) A molecular basis for classic blond hair color in Europeans.	GP00001349	KITLG P21583	Morphology	A>G SNP(rs12821256) 350kb upstream of transcription start	Homo sapiens human - (species)	Homo sapiens human - (species) D	Kit ligand	Homo sapiens human - (species)	Published - Accepted by Curator
lactase (LCT)	Lactose tolerance (adult)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Linkage Mapping	Enattah NS; Sahi T; Savilahti E ; et al. (2002) Identification of a variant associated with adult-type hypolactasia. 1 Additional References Tishkoff SA; Reed FA; Ranciaro A (2007) Convergent adaptation of human lactase persistence in Africa and Europe.	GP00000529	LCT P09848	Physiology	C-13910T	Homo sapiens human - (species)	Homo sapiens human - (species)	lactase (LCT)	Homo sapiens human - (species)	Published - Accepted by Curator
lactase (LCT)	Lactose tolerance (adult)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007) Convergent adaptation of human lactase persistence in Africa and Europe.	GP00000530	LCT P09848	Physiology	C-13907G	Homo sapiens human - (species)	Homo sapiens human - (species)	lactase (LCT)	Homo sapiens human - (species)	Published - Accepted by Curator
lactase (LCT)	Lactose tolerance (adult)	Cis-regulatory, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007) Convergent adaptation of human lactase persistence in Africa and Europe.	GP00000531	LCT P09848	Physiology	T-13915G	Homo sapiens human - (species)	Homo sapiens human - (species) D	lactase (LCT)	Homo sapiens human - (species)	Published - Accepted by Curator
lactase (LCT)	Lactose tolerance (adult)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007) Convergent adaptation of human lactase persistence in Africa and Europe. 1 Additional References Breton G; Schlebusch CM; Lombard M (2014) Lactase persistence alleles reveal partial East African ancestry of southern African Khoe pastoralis[...]	GP00000532	LCT P09848	Physiology	G14010C ; In Khoe Pastoralist group lactase persistence (LP)-regulatory region 2 SNPs with greatest frequencies 13910C>T and 14010G>C	Homo sapiens human - (species)	Homo sapiens human - (species)	lactase (LCT)	Homo sapiens human - (species)	Published - Accepted by Curator
lactase (LCT)	Lactose tolerance (adult)	Cis-regulatory, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Jones BL; Raga TO; Liebert A ; et al. (2013) Diversity of lactase persistence alleles in Ethiopia: signature of a soft selective sweep. 1 Additional References Liebert A; Jones BL; Danielsen ET (2016) In Vitro Functional Analyses of Infrequent Nucleotide Variants in the Lactase Enhancer Reveal Differ[...]	GP00001714	LCT P09848	Physiology	T14009G (rs869051967) (ss 820486563)	Homo sapiens human - (species)	Homo sapiens human - (species) D	lactase (LCT)	Homo sapiens human - (species)	Published - Accepted by Curator
lanosterol c14 demethylase	Cholesterol metabolism (cholesterol biosynthesis)	Gene Loss, Deletion N	Caenorhabditis elegans (species) D	Intergeneric or Higher	Candidate Gene	Vinci G; Xia X; Veitia RA (2008) Preservation of genes involved in sterol metabolism in cholesterol auxotrophs: facts and hypotheses.	GP00001951	CYP51A1 Q16850	Physiology	gene absent in the genome N	Homo sapiens human - (species)	Caenorhabditis elegans (species) D	lanosterol c14 demethylase	Caenorhabditis elegans (species)	Published - Accepted by Curator
lanosterol c14 demethylase	Cholesterol metabolism (cholesterol biosynthesis)	Gene Loss, Deletion N	Drosophila melanogaster fruit fly - (species) D	Intergeneric or Higher	Candidate Gene	Vinci G; Xia X; Veitia RA (2008) Preservation of genes involved in sterol metabolism in cholesterol auxotrophs: facts and hypotheses.	GP00001952	CYP51A1 Q16850	Physiology	gene absent in the genome N	Homo sapiens human - (species)	Drosophila melanogaster fruit fly - (species) D	lanosterol c14 demethylase	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
lanosterol synthase	Cholesterol metabolism (cholesterol biosynthesis)	Gene Loss, Deletion N	Drosophila melanogaster fruit fly - (species) D	Intergeneric or Higher	Candidate Gene	Kurzchalia TV; Ward S (2003) Why do worms need cholesterol? 1 Additional References Vinci G; Xia X; Veitia RA (2008) Preservation of genes involved in sterol metabolism in cholesterol auxotrophs: facts and hypotheses.	GP00001949	LSS P48449	Physiology	gene absent in the genome N	Homo sapiens human - (species)	Drosophila melanogaster fruit fly - (species) D	lanosterol synthase	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
lanosterol synthase	Cholesterol metabolism (cholesterol biosynthesis)	Gene Loss, Deletion N	Caenorhabditis elegans (species) D	Intergeneric or Higher	Candidate Gene	Kurzchalia TV; Ward S (2003) Why do worms need cholesterol? 1 Additional References Vinci G; Xia X; Veitia RA (2008) Preservation of genes involved in sterol metabolism in cholesterol auxotrophs: facts and hypotheses.	GP00001950	LSS P48449	Physiology	gene absent in the genome N	Homo sapiens human - (species)	Caenorhabditis elegans (species) D	lanosterol synthase	Caenorhabditis elegans (species)	Published - Accepted by Curator
LCORL	Body size	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Horikoshi M; Yaghootkar H; Mook-Kanamori DO ; et al. (2013) New loci associated with birth weight identify genetic links between intrauterine growth[...]	GP00000537	LCORL Q8N3X6	Morphology	Not identified	Homo sapiens human - (species)	Homo sapiens human - (species)	LCORL	Homo sapiens human - (species)	Published - Accepted by Curator
LIN28B	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lettre G (2011) Recent progress in the study of the genetics of height.	GP00000548	LIN28B Q6ZN17	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	LIN28B	Homo sapiens human - (species)	Published - Accepted by Curator
LPAR1	Hematopoiesis (blood monocyte count)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]	GP00001612	LPAR1 Q92633	Physiology	A>G at the associated SNP. 2 variants located in an uncharacterized long noncoding RNA	Homo sapiens human - (species)	Homo sapiens human - (species)	LPAR1	Homo sapiens human - (species)	Published - Accepted by Curator
LY86	Body fat distribution (visceral/subcutaneous ratio)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Chu AY; Deng X; Fisher VA ; et al. (2017) Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]	GP00001562	LY86 O95711	Physiology	A>T in associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	LY86	Homo sapiens human - (species)	Published - Accepted by Curator
LYPLAL1	Body fat distribution (visceral/subcutaneous ratio)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Chu AY; Deng X; Fisher VA ; et al. (2017) Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]	GP00001561	LYPLAL1 Q5VWZ2	Physiology	T>C in associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	LYPLAL1	Homo sapiens human - (species)	Published - Accepted by Curator
MARVELD3	Pathogen resistance (Plasmodium; malaria parasite)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Timmann C; Thye T; Vens M ; et al. (2012) Genome-wide association study indicates two novel resistance loci for severe malaria.	GP00000564	MARVELD3 Q96A59	Physiology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	MARVELD3	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Smith R; Healy E; Siddiqui S ; et al. (1998) Melanocortin 1 receptor variants in an Irish population. 1 Additional References Smith R; Healy E; Siddiqui S (1998) Melanocortin 1 receptor variants in an Irish population.	GP00000615	MC1R Q01726	Morphology	R151C	Homo sapiens human - (species)	Homo sapiens human - (species) D	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Smith R; Healy E; Siddiqui S ; et al. (1998) Melanocortin 1 receptor variants in an Irish population. 1 Additional References Box NF; Wyeth JR; O'Gorman LE (1997) Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.	GP00000616	MC1R Q01726	Morphology	D294H	Homo sapiens human - (species)	Homo sapiens human - (species) D	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Smith R; Healy E; Siddiqui S ; et al. (1998) Melanocortin 1 receptor variants in an Irish population. 1 Additional References Box NF; Wyeth JR; O'Gorman LE (1997) Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.	GP00000617	MC1R Q01726	Morphology	R160W	Homo sapiens human - (species)	Homo sapiens human - (species) D	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Box NF; Wyeth JR; O'Gorman LE ; et al. (1997) Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. 3 Additional References Sulem P; Gudbjartsson DF; Stacey SN (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. Harding RM; Healy E; Ray AJ (2000) Evidence for variable selective pressures at MC1R. Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000618	MC1R Q01726	Morphology	Val60Leu	Homo sapiens human - (species)	Homo sapiens human - (species) D	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000619	MC1R Q01726	Morphology	Asp84Glu	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000620	MC1R Q01726	Morphology	Val92Met	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000621	MC1R Q01726	Morphology	Arg142His	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000622	MC1R Q01726	Morphology	Arg151Cys	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000623	MC1R Q01726	Morphology	Ile155Thr	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000624	MC1R Q01726	Morphology	Arg160Trp	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000625	MC1R Q01726	Morphology	Arg163Gln	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000626	MC1R Q01726	Morphology	Asp294His	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Lalueza-Fox C; Römpler H; Caramelli D ; et al. (2007) A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals.	GP00000630	MC1R Q01726	Morphology	Arg307Gly	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MDR1	Xenobiotic resistance	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Kimchi-Sarfaty C; Oh JM; Kim IW ; et al. (2007) A "silent" polymorphism in the MDR1 gene changes substrate specificity.	GP00001858	ABCB1 P08183	Physiology	C3435T - synonymous mutation Ile - The SNP at position 26/3435 that changes the codon from ATC to ATT (Ile) reduces the codon usage from 47% to 35% (RSCU values change from 20.9 to 15.8). Leads to similar mRNA and protein levels but altered conformation of the protein.	Homo sapiens human - (species)	Homo sapiens human - (species) D	MDR1	Homo sapiens human - (species)	Published - Accepted by Curator
MFSD12	Coloration (skin)	Coding, SNP N	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Adhikari K; Mendoza-Revilla J; Sohail A ; et al. (2019) A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasi[...] 1 Additional References Crawford NG; Kelly DE; Hansen MEB (2017) Loci associated with skin pigmentation identified in African populations.	GP00002245	MFSD12 Q6NUT3	Morphology	Y182H N	Homo sapiens human - (species)	Homo sapiens human - (species) D	MFSD12	Homo sapiens human - (species)	Published - Accepted by Curator
MFSD12	Coloration (skin)	Cis-regulatory, Complex Change N	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Crawford NG; Kelly DE; Hansen MEB ; et al. (2017) Loci associated with skin pigmentation identified in African populations.	GP00002246	MFSD12 Q6NUT3	Morphology	eight potentially causal SNPs cluster in two regions: one within MFSD12 (intronic SNP and synonymous SNP in exon 9) and the other ~7600 to 9000 base pairs (bp) upstream of MFSD12 ; many SNPs are in predicted regulatory regions active in melanocytes and/or keratinocytes show enhancer activity in luciferase expression assays N	Homo sapiens human - (species)	Homo sapiens human - (species) D	MFSD12	Homo sapiens human - (species)	Published - Accepted by Curator
myosin heavy chain 16 (MYH16)	Masticatory muscles	Coding, Deletion N	Homo sapiens human - (species) D	Intergeneric or Higher	Candidate Gene	Stedman HH; Kozyak BW; Nelson A ; et al. (2004) Myosin gene mutation correlates with anatomical changes in the human lineage.	GP00000683	MYH16 Q9H6N6	Morphology	2bp deletion at codon 660 N	Pan troglodytes chimpanzee - (species)	Homo sapiens human - (species) D	myosin heavy chain 16 (MYH16)	Homo sapiens human - (species)	Published - Accepted by Curator
natriuretic peptide precursor type C (NPPC)	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Estrada K; Krawczak M; Schreiber S ; et al. (2009) A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide si[...]	GP00000719	Nppc Q61839	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	natriuretic peptide precursor type C (NPPC)	Homo sapiens human - (species)	Published - Accepted by Curator
natriuretic peptide receptor 3 (NPR3)	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Estrada K; Krawczak M; Schreiber S ; et al. (2009) A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide si[...] 1 Additional References Soranzo N; Rivadeneira F; Chinappen-Horsley U (2009) Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations wi[...]	GP00000720	NPR3 Q8L746	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	natriuretic peptide receptor 3 (NPR3)	Homo sapiens human - (species)	Published - Accepted by Curator
Oca2	Coloration (eyes; skin, hair)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Eiberg H; Troelsen J; Nielsen M ; et al. (2008) Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory el[...] 5 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...] Visser M; Kayser M; Palstra RJ (2012) HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long[...] Beleza S; Johnson NA; Candille SI (2013) Genetic architecture of skin and eye color in an African-European admixed population. Crawford NG; Kelly DE; Hansen MEB (2017) Loci associated with skin pigmentation identified in African populations. Lona-Durazo F; Hernandez-Pacheco N; Fan S (2019) Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation [...]	GP00000747	Oca2 Q62052	Morphology	Causative SNP in enhancer localized in intron of neighbor gene HERC2 : likely rs12913832 within HERC2 which influences on OCA2 expression in eye hair and skin pigmentation	Homo sapiens human - (species)	Homo sapiens human - (species)	Oca2	Homo sapiens human - (species)	Published - Accepted by Curator
Oca2	Coloration (skin)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Edwards M; Bigham A; Tan J ; et al. (2010) Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: furth[...] 1 Additional References Yang Z; Zhong H; Chen J (2016) A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution.	GP00000748	Oca2 Q62052	Morphology	His615Arg	Homo sapiens human - (species)	Homo sapiens human - (species) D	Oca2	Homo sapiens human - (species)	Published - Accepted by Curator
OPRM1	Coloration (skin)	Unknown, Unknown	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Quillen EE; Bauchet M; Bigham AW ; et al. (2012) OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and European[...]	GP00001536	OPRM1 P35372	Morphology	C>T associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species) D	OPRM1	Homo sapiens human - (species)	Published - Accepted by Curator
OR7D4	Olfaction	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Keller A; Zhuang H; Chi Q ; et al. (2007) Genetic variation in a human odorant receptor alters odour perception. 1 Additional References Zhuang H; Chien MS; Matsunami H (2009) Dynamic functional evolution of an odorant receptor for sex-steroid-derived odors in primates.	GP00000799	OR7D4 Q8NG98	Physiology	P79L	Homo sapiens human - (species)	Homo sapiens human - (species)	OR7D4	Homo sapiens human - (species)	Published - Accepted by Curator
OR7D4	Olfaction	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Keller A; Zhuang H; Chi Q ; et al. (2007) Genetic variation in a human odorant receptor alters odour perception.	GP00000800	OR7D4 Q8NG98	Physiology	R227G	Homo sapiens human - (species)	Homo sapiens human - (species)	OR7D4	Homo sapiens human - (species)	Published - Accepted by Curator
OR7D4	Olfaction	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Keller A; Zhuang H; Chi Q ; et al. (2007) Genetic variation in a human odorant receptor alters odour perception.	GP00000801	OR7D4 Q8NG98	Physiology	T133M	Homo sapiens human - (species)	Homo sapiens human - (species)	OR7D4	Homo sapiens human - (species)	Published - Accepted by Curator
OR7D4	Olfaction	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Keller A; Zhuang H; Chi Q ; et al. (2007) Genetic variation in a human odorant receptor alters odour perception.	GP00000802	OR7D4 Q8NG98	Physiology	S84N	Homo sapiens human - (species)	Homo sapiens human - (species)	OR7D4	Homo sapiens human - (species)	Published - Accepted by Curator
OR7D4	Olfaction	Coding, SNP	Homo sapiens human - (species) D	Interspecific	Candidate Gene	Keller A; Zhuang H; Chi Q ; et al. (2007) Genetic variation in a human odorant receptor alters odour perception. 1 Additional References Zhuang H; Chien MS; Matsunami H (2009) Dynamic functional evolution of an odorant receptor for sex-steroid-derived odors in primates.	GP00000803	OR7D4 Q8NG98	Physiology	R227G	Homininae (subfamily)	Homo sapiens human - (species) D	OR7D4	Homo sapiens human - (species)	Published - Accepted by Curator
OR7D4	Olfaction	Coding, SNP	Homo sapiens human - (species) D	Interspecific	Candidate Gene	Zhuang H; Chien MS; Matsunami H (2009) Dynamic functional evolution of an odorant receptor for sex-steroid-derived odors in primates.	GP00000804	OR7D4 Q8NG98	Physiology	M273T	Homininae (subfamily)	Homo sapiens human - (species) D	OR7D4	Homo sapiens human - (species)	Published - Accepted by Curator
P2RY5	Hair type (woolly)	Coding, Insertion N	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Shimomura Y; Wajid M; Ishii Y ; et al. (2008) Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]	GP00000817	LPAR6 P43657	Morphology	at position 69 insertion of 4bp CATG - causes frameshift at codon 24 (PTC +29) N	Homo sapiens human - (species)	Homo sapiens human - (species) D	P2RY5	Homo sapiens human - (species)	Published - Accepted by Curator
P2RY5	Hair type (woolly)	Coding, Deletion N	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Shimomura Y; Wajid M; Ishii Y ; et al. (2008) Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]	GP00001734	LPAR6 P43657	Morphology	2 deletions - one at position 172-175 delAACT and one at position 177 delG - cause frameshift at codon 58 (PTC +31) N	Homo sapiens human - (species)	Homo sapiens human - (species) D	P2RY5	Homo sapiens human - (species)	Published - Accepted by Curator
P2RY5	Hair type (woolly)	Coding, SNP N	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Shimomura Y; Wajid M; Ishii Y ; et al. (2008) Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]	GP00001735	LPAR6 P43657	Morphology	188A>T which causes D63V N	Homo sapiens human - (species)	Homo sapiens human - (species) D	P2RY5	Homo sapiens human - (species)	Published - Accepted by Curator
P2RY5	Hair type (woolly)	Coding, SNP N	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Shimomura Y; Wajid M; Ishii Y ; et al. (2008) Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]	GP00001736	LPAR6 P43657	Morphology	562A>T which causes I188F N	Homo sapiens human - (species)	Homo sapiens human - (species) D	P2RY5	Homo sapiens human - (species)	Published - Accepted by Curator
P2RY5	Hair type (woolly)	Coding, SNP N	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Shimomura Y; Wajid M; Ishii Y ; et al. (2008) Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]	GP00001737	LPAR6 P43657	Morphology	565G>A which causes E189K N	Homo sapiens human - (species)	Homo sapiens human - (species) D	P2RY5	Homo sapiens human - (species)	Published - Accepted by Curator
Patched1 (Ptc1)	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lettre G (2011) Recent progress in the study of the genetics of height.	GP00000855	ptch1 Q98864	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	Patched1 (Ptc1)	Homo sapiens human - (species)	Published - Accepted by Curator
PIK3CG	Hematopoiesis (mean blood platelet volume)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]	GP00001611	PIK3CG P48736	Physiology	C>G at the associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	PIK3CG	Homo sapiens human - (species)	Published - Accepted by Curator
PPAR-alpha	Hypoxia response	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Simonson TS; Yang Y; Huff CD ; et al. (2010) Genetic evidence for high-altitude adaptation in Tibet. 1 Additional References Bigham A; Bauchet M; Pinto D (2010) Identifying signatures of natural selection in Tibetan and Andean populations using dense genome sca[...]	GP00000917	PPARA Q07869	Physiology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	PPAR-alpha	Homo sapiens human - (species)	Published - Accepted by Curator
PPAR-delta	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	N'Diaye A; Chen GK; Palmer CD ; et al. (2011) Identification, replication, and fine-mapping of Loci associated with adult height in individuals of[...] 1 Additional References Lango Allen H; Estrada K; Lettre G (2010) Hundreds of variants clustered in genomic loci and biological pathways affect human height.	GP00000918	PPARD Q03181	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	PPAR-delta	Homo sapiens human - (species)	Published - Accepted by Curator
Prdm9	Recombination rate (use of recombination hotspots)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Berg IL; Neumann R; Sarbajna S ; et al. (2011) Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots [...]	GP00000923	Prdm9 Q96EQ9	Physiology	Various haplotypes	Homo sapiens human - (species)	Homo sapiens human - (species)	Prdm9	Homo sapiens human - (species)	Published - Accepted by Curator
prodynorphin (PDYN)	Neuroendocronological homeostasis	Cis-regulatory, SNP	Homo sapiens human - (species)	Interspecific	Candidate Gene	Rockman MV; Hahn MW; Soranzo N ; et al. (2005) Ancient and recent positive selection transformed opioid cis-regulation in humans. 1 Additional References Babbitt CC; Silverman JS; Haygood R (2010) Multiple Functional Variants in cis Modulate PDYN Expression.	GP00000924	PDYN P01213	Physiology	up to 5 polymorphisms in 5' regulatory region	Primates (order)	Homo sapiens human - (species)	prodynorphin (PDYN)	Homo sapiens human - (species)	Published - Accepted by Curator
PSMD13	Hematopoiesis (mean blood platelet volume)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]	GP00001615	PSMD13 Q9UNM6	Physiology	A>G at the associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	PSMD13	Homo sapiens human - (species)	Published - Accepted by Curator
RREB1	Body fat distribution (visceral)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Chu AY; Deng X; Fisher VA ; et al. (2017) Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]	GP00001555	RREB1 Q92766	Physiology	C>G in associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	RREB1	Homo sapiens human - (species)	Published - Accepted by Curator
SBNO1	Head size	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Taal HR; Pourcain BS; Thiering E ; et al. (2012) Common variants at 12q15 and 12q24 are associated with infant head circumference.	GP00001023	SBNO1 A3KN83	Morphology	Ser729Asn	Homo sapiens human - (species)	Homo sapiens human - (species)	SBNO1	Homo sapiens human - (species)	Published - Accepted by Curator
SIGLEC13	Pathogen resistance	Gene Loss, Complex Change N	Homo sapiens human - (species)	Interspecific	Candidate Gene	Wang X; Mitra N; Secundino I ; et al. (2012) Specific inactivation of two immunomodulatory SIGLEC genes during human evolution.	GP00001052	SIGLEC13 Q64JA4	Physiology	Gene deletion by Alu-mediated recombination N	Primates (order)	Homo sapiens human - (species)	SIGLEC13	Homo sapiens human - (species)	Published - Accepted by Curator
SIGLEC17P (pseudogene)	Pathogen resistance	Coding, Deletion N	Homo sapiens human - (species) D	Interspecific	Candidate Gene	Wang X; Mitra N; Secundino I ; et al. (2012) Specific inactivation of two immunomodulatory SIGLEC genes during human evolution.	GP00001053	SIGLEC13 Q64JA4	Physiology	1bp deletion resulting in frame-shift (pseudogenization) N	Primates (order)	Homo sapiens human - (species) D	SIGLEC17P (pseudogene)	Homo sapiens human - (species)	Published - Accepted by Curator
SLC24A5 (NCKX5)	Coloration (eyes; skin)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lamason RL; Mohideen MA; Mest JR ; et al. (2005) SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. 5 Additional References Beleza S; Johnson NA; Candille SI (2013) Genetic architecture of skin and eye color in an African-European admixed population. Wakamatsu K; Kavanagh R; Kadekaro AL (2006) Diversity of pigmentation in cultured human melanocytes is due to differences in the type as well as[...] Ginger RS; Askew SE; Ogborne RM (2008) SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activ[...] Quillen EE; Bauchet M; Bigham AW (2012) OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and European[...] Basu Mallick C; Iliescu FM; Möls M (2013) The light skin allele of SLC24A5 in South Asians and Europeans shares identity by descent.	GP00001056	Slc24a5 Q8C261	Morphology	Ala111Thr	Homo sapiens human - (species)	Homo sapiens human - (species)	SLC24A5 (NCKX5)	Homo sapiens human - (species)	Published - Accepted by Curator
SLC45A2=MATP	Coloration (eyes; hair; skin)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Graf J; Hodgson R; van Daal A (2005) Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation varia[...] 3 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...] Quillen EE; Bauchet M; Bigham AW (2012) OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and European[...] Cook AL; Chen W; Thurber AE (2009) Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5[...]	GP00001061	SLC45A2 Q9UMX9	Morphology	Phe374Leu	Homo sapiens human - (species)	Homo sapiens human - (species)	SLC45A2=MATP	Homo sapiens human - (species)	Published - Accepted by Curator
SMAD family member 2 (SMAD2)	Body size (weight)	Cis-regulatory, Deletion	Homo sapiens human - (species) D	Domesticated	Association Mapping	Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013) Derived variants at six genes explain nearly half of size reduction in dog breeds.	GP00001477	SMAD2 E2RP23	Morphology	9.9 kb deletion 24-kb dowstream from coding region	Canis lupus gray wolf - (species)	Homo sapiens human - (species) D	SMAD family member 2 (SMAD2)	Homo sapiens human - (species)	Published - Accepted by Curator
squalene synthase	Cholesterol metabolism (cholesterol biosynthesis)	Gene Loss, Deletion N	Caenorhabditis elegans (species) D	Intergeneric or Higher	Candidate Gene	Kurzchalia TV; Ward S (2003) Why do worms need cholesterol? 1 Additional References Vinci G; Xia X; Veitia RA (2008) Preservation of genes involved in sterol metabolism in cholesterol auxotrophs: facts and hypotheses.	GP00001947	FDFT1 P37268	Physiology	gene absent in the genome N	Homo sapiens human - (species)	Caenorhabditis elegans (species) D	squalene synthase	Caenorhabditis elegans (species)	Published - Accepted by Curator
squalene synthase	Cholesterol metabolism (cholesterol biosynthesis)	Gene Loss, Deletion N	Drosophila melanogaster fruit fly - (species) D	Intergeneric or Higher	Candidate Gene	Kurzchalia TV; Ward S (2003) Why do worms need cholesterol? 1 Additional References Vinci G; Xia X; Veitia RA (2008) Preservation of genes involved in sterol metabolism in cholesterol auxotrophs: facts and hypotheses.	GP00001948	FDFT1 P37268	Physiology	gene absent in the genome N	Homo sapiens human - (species)	Drosophila melanogaster fruit fly - (species) D	squalene synthase	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
SRGAP2	Neuronal maturation	Gene Amplification, Complex Change	Primates (order)	Intergeneric or Higher	Candidate Gene	Charrier C; Joshi K; Coutinho-Budd J ; et al. (2012) Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation[...] 1 Additional References Dennis MY; Nuttle X; Sudmant PH (2012) Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.	GP00001077	Srgap2 Q91Z67	Physiology	Partial duplications (negative alleles)	Homo sapiens human - (species)	Primates (order)	SRGAP2	Primates (order)	Published - Accepted by Curator
stanniocalcin 2 (STC2)	Body size (weight)	Cis-regulatory, SNP	Homo sapiens human - (species) D	Domesticated	Association Mapping	Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013) Derived variants at six genes explain nearly half of size reduction in dog breeds.	GP00001478	STC2 O76061	Morphology	T>A 20-kb downstream from coding region	Canis lupus gray wolf - (species)	Homo sapiens human - (species) D	stanniocalcin 2 (STC2)	Homo sapiens human - (species)	Published - Accepted by Curator
sterol C5 desaturase	Cholesterol metabolism (cholesterol biosynthesis)	Gene Loss, Deletion N	Drosophila melanogaster fruit fly - (species) D	Intergeneric or Higher	Candidate Gene	Vinci G; Xia X; Veitia RA (2008) Preservation of genes involved in sterol metabolism in cholesterol auxotrophs: facts and hypotheses.	GP00001953	ERG3 P32353	Physiology	gene absent in the genome N	Homo sapiens human - (species)	Drosophila melanogaster fruit fly - (species) D	sterol C5 desaturase	Drosophila melanogaster fruit fly - (species)	Published - Accepted by Curator
sterol C5 desaturase	Cholesterol metabolism (cholesterol biosynthesis)	Gene Loss, Deletion N	Caenorhabditis elegans (species) D	Intergeneric or Higher	Candidate Gene	Vinci G; Xia X; Veitia RA (2008) Preservation of genes involved in sterol metabolism in cholesterol auxotrophs: facts and hypotheses.	GP00001954	ERG3 P32353	Physiology	gene absent in the genome N	Homo sapiens human - (species)	Caenorhabditis elegans (species) D	sterol C5 desaturase	Caenorhabditis elegans (species)	Published - Accepted by Curator
TAS2R38	Taste sensitivity (bitter)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Kim UK; Jorgenson E; Coon H ; et al. (2003) Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthioc[...] 1 Additional References Wooding S; Bufe B; Grassi C (2006) Independent evolution of bitter-taste sensitivity in humans and chimpanzees.	GP00001111	TAS2R38 P59533	Physiology	P49A and/or A262V and/or V296I	Homo sapiens human - (species)	Homo sapiens human - (species)	TAS2R38	Homo sapiens human - (species)	Published - Accepted by Curator
TBX15	Ear shape	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Adhikari K; Reales G; Smith AJ ; et al. (2015) A genome-wide association study identifies multiple loci for variation in human ear morphology.	GP00001113	TBX15 Q96SF7	Morphology	Tbx15 enhancer variation including rs17023457 T or C alleles that affect CART1 binding on a conserved site	Homo sapiens human - (species)	Homo sapiens human - (species)	TBX15	Homo sapiens human - (species)	Published - Accepted by Curator
TLR6-TLR1-TLR10 cluster	Immune response	Unknown, Complex Change	Homo sapiens human - (species)	Intraspecific	Association Mapping	Laayouni H; Oosting M; Luisi P ; et al. (2014) Convergent evolution in European and Rroma populations reveals pressure exerted by plague on Toll-li[...] 1 Additional References Dannemann M; Andrés AM; Kelso J (2016) Introgression of Neandertal- and Denisovan-like Haplotypes Contributes to Adaptive Variation in Huma[...]	GP00001130	TLR1 Q15399	Physiology	Several Complex Haplotypes under positive selection - evidence on Adaptive Introgression from Neanderthal (2 haplotypes) and Denisova (1 haplotype)	Homo sapiens human - (species)	Homo sapiens human - (species)	TLR6-TLR1-TLR10 cluster	Homo sapiens human - (species)	Published - Accepted by Curator
TMPRSS6	Hematopoiesis (mean blood corpuscular hemoglobin)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]	GP00001618	TMPRSS6 Q8IU80	Physiology	T>C at the associated SNP. Another SNP variant in strong LD p.V736A previously reported to influence iron homeostasis	Homo sapiens human - (species)	Homo sapiens human - (species)	TMPRSS6	Homo sapiens human - (species)	Published - Accepted by Curator
TPCN2	Coloration (coat)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2008) Two newly identified genetic determinants of pigmentation in Europeans.	GP00001131	TPCN2 Q8NHX9	Morphology	Met484Leu and/or Gly734Gln	Homo sapiens human - (species)	Homo sapiens human - (species)	TPCN2	Homo sapiens human - (species)	Published - Accepted by Curator
TRIB2	Body fat distribution (pericardial)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Chu AY; Deng X; Fisher VA ; et al. (2017) Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]	GP00001559	TRIB2 Q92519	Physiology	A>G in associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	TRIB2	Homo sapiens human - (species)	Published - Accepted by Curator
Trichohyalin	Hair type (straight)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Medland SE; Nyholt DR; Painter JN ; et al. (2009) Common variants in the trichohyalin gene are associated with straight hair in Europeans.	GP00001134	TCHH Q07283	Morphology	Not identified	Homo sapiens human - (species)	Homo sapiens human - (species)	Trichohyalin	Homo sapiens human - (species)	Published - Accepted by Curator
TRIP11 (=GMAP-210)	Body size (height)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Lettre G (2011) Recent progress in the study of the genetics of height.	GP00001138	TRIP11 Q15643	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	TRIP11 (=GMAP-210)	Homo sapiens human - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (eyes; hair; skin)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 2 Additional References Sulem P; Gudbjartsson DF; Stacey SN (2008) Two newly identified genetic determinants of pigmentation in Europeans. Gudbjartsson DF; Sulem P; Stacey SN (2008) ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.	GP00001144	Tyr P11344	Morphology	R402Q	Homo sapiens human - (species)	Homo sapiens human - (species)	tyrosinase (TYR)	Homo sapiens human - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (skin; eye; freckles)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Wilde S; Timpson A; Kirsanow K ; et al. (2014) Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the l[...]	GP00001348	Tyr P11344	Morphology	c. C>A p.Ser192Tyr	Homo sapiens human - (species)	Homo sapiens human - (species) D	tyrosinase (TYR)	Homo sapiens human - (species)	Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)	Coloration (coat)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Kenny EE; Timpson NJ; Sikora M ; et al. (2012) Melanesian blond hair is caused by an amino acid change in TYRP1.	GP00001155	Tyrp1 P07147	Morphology	R93C	Homo sapiens human - (species)	Homo sapiens human - (species) D	tyrosinase-related protein 1 (TYRP1)	Homo sapiens human - (species)	Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)	Coloration (eyes; hair; skin)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Frudakis T; Thomas M; Gaskin Z ; et al. (2003) Sequences associated with human iris pigmentation. 1 Additional References Sulem P; Gudbjartsson DF; Stacey SN (2008) Two newly identified genetic determinants of pigmentation in Europeans.	GP00001157	Tyrp1 P07147	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	tyrosinase-related protein 1 (TYRP1)	Homo sapiens human - (species)	Published - Accepted by Curator
UBE2E2	Body fat distribution (visceral/subcutaneous ratio)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Chu AY; Deng X; Fisher VA ; et al. (2017) Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]	GP00001553	UBE2E2 Q96LR5	Physiology	T>C in associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	UBE2E2	Homo sapiens human - (species)	Published - Accepted by Curator
Vkorc1	Xenobiotic resistance (anti-coagulant drug response; warfarin)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Linkage Mapping	Rost S; Fregin A; Ivaskevicius V ; et al. (2004) Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. 2 Additional References Takeuchi F; McGinnis R; Bourgeois S (2009) A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinant[...] Cha PC; Mushiroda T; Takahashi A (2010) Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanes[...]	GP00001168	VKORC1 Q9BQB6	Physiology	R98W	Homo sapiens human - (species)	Homo sapiens human - (species) D	Vkorc1	Homo sapiens human - (species)	Published - Accepted by Curator
Vkorc1	Xenobiotic resistance (anti-coagulant drug response; warfarin)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Rost S; Fregin A; Ivaskevicius V ; et al. (2004) Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. 2 Additional References Takeuchi F; McGinnis R; Bourgeois S (2009) A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinant[...] Cha PC; Mushiroda T; Takahashi A (2010) Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanes[...]	GP00001169	VKORC1 Q9BQB6	Physiology	V29L	Homo sapiens human - (species)	Homo sapiens human - (species) D	Vkorc1	Homo sapiens human - (species)	Published - Accepted by Curator
Vkorc1	Xenobiotic resistance (anti-coagulant drug response; warfarin)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Rost S; Fregin A; Ivaskevicius V ; et al. (2004) Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. 2 Additional References Takeuchi F; McGinnis R; Bourgeois S (2009) A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinant[...] Cha PC; Mushiroda T; Takahashi A (2010) Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanes[...]	GP00001170	VKORC1 Q9BQB6	Physiology	V45A	Homo sapiens human - (species)	Homo sapiens human - (species) D	Vkorc1	Homo sapiens human - (species)	Published - Accepted by Curator
Vkorc1	Xenobiotic resistance (anti-coagulant drug response; warfarin)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Rost S; Fregin A; Ivaskevicius V ; et al. (2004) Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. 2 Additional References Takeuchi F; McGinnis R; Bourgeois S (2009) A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinant[...] Cha PC; Mushiroda T; Takahashi A (2010) Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanes[...]	GP00001171	VKORC1 Q9BQB6	Physiology	R58G	Homo sapiens human - (species)	Homo sapiens human - (species) D	Vkorc1	Homo sapiens human - (species)	Published - Accepted by Curator
WDR66	Hematopoiesis (mean blood platelet volume)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]	GP00001604	WDR66 Q8TBY9	Physiology	A>G at the associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species)	WDR66	Homo sapiens human - (species)	Published - Accepted by Curator