Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042602
rs1042602
TYR ; LOC107984363
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.800 GeneticVariation GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351

2018
dbSNP: rs1042602
rs1042602
TYR ; LOC107984363
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		C 0.800 GeneticVariation GWASCAT A genomewide association study of skin pigmentation in a South Asian population. 17999355

2007
dbSNP: rs16891982
rs16891982
SLC45A2
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.800 GeneticVariation GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351

2018
dbSNP: rs16891982
rs16891982
SLC45A2
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		G 0.800 GeneticVariation GWASCAT Identification of a novel locus associated with skin colour in African-admixed populations. 28300201

2017
dbSNP: rs16891982
rs16891982
SLC45A2
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		C 0.800 GeneticVariation GWASCAT A genomewide association study of skin pigmentation in a South Asian population. 17999355

2007
dbSNP: rs1834640
rs1834640
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		G 0.800 GeneticVariation GWASCAT A genomewide association study of skin pigmentation in a South Asian population. 17999355

2007
dbSNP: rs10810657
rs10810657
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 GeneticVariation GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351

2018
dbSNP: rs1110400
rs1110400
MC1R
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 GeneticVariation GWASCAT Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. 25963972

2015
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 GeneticVariation GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351

2018
dbSNP: rs1129038
rs1129038
HERC2
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 GeneticVariation GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351

2018
dbSNP: rs117307642
rs117307642
SLFN12L
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		T 0.700 GeneticVariation GWASCAT Identification of a novel locus associated with skin colour in African-admixed populations. 28300201

2017
dbSNP: rs12202284
rs12202284
LOC105374875
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		A 0.700 GeneticVariation GWASCAT Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. 23548203

2013
dbSNP: rs12203592
rs12203592
IRF4
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 GeneticVariation GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351

2018
dbSNP: rs12203592
rs12203592
IRF4
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		T 0.700 GeneticVariation GWASCAT Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. 25963972

2015
dbSNP: rs12203592
rs12203592
IRF4
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		T 0.700 GeneticVariation GWASCAT Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. 23548203

2013
dbSNP: rs12913832
rs12913832
HERC2
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 GeneticVariation GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351

2018
dbSNP: rs12913832
rs12913832
HERC2
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		A 0.700 GeneticVariation GWASCAT Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. 25963972

2015
dbSNP: rs12931267
rs12931267
FANCA
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 GeneticVariation GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351

2018
dbSNP: rs151165649
rs151165649
PRTFDC1
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		A 0.700 GeneticVariation GWASCAT Identification of a novel locus associated with skin colour in African-admixed populations. 28300201

2017
dbSNP: rs1667392
rs1667392
HERC2
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 GeneticVariation GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351

2018
dbSNP: rs1667392
rs1667392
HERC2
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		G 0.700 GeneticVariation GWASCAT Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. 25963972

2015
dbSNP: rs1800407
rs1800407
OCA2
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 GeneticVariation GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351

2018
dbSNP: rs1805005
rs1805005
MC1R
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 GeneticVariation GWASCAT Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. 25963972

2015
dbSNP: rs1805007
rs1805007
MC1R
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 GeneticVariation GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351

2018
dbSNP: rs1805007
rs1805007
MC1R
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		T 0.700 GeneticVariation GWASCAT Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. 25963972

2015