Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Skin Pigmentation
CUI: C0037290
Disease: Skin Pigmentation
0.800 GeneticVariation GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351 2018
Skin Pigmentation
CUI: C0037290
Disease: Skin Pigmentation
0.800 GeneticVariation GWASDB A genomewide association study of skin pigmentation in a South Asian population. 17999355 2007
Skin Pigmentation
CUI: C0037290
Disease: Skin Pigmentation
0.800 GeneticVariation GWASCAT A genomewide association study of skin pigmentation in a South Asian population. 17999355 2007
Tonometry
CUI: C0040420
Disease: Tonometry
0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
Hair Color
CUI: C0018498
Disease: Hair Color
0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
Melanosis
CUI: C0025209
Disease: Melanosis
0.700 GeneticVariation GWASCAT Genetic determinants of hair, eye and skin pigmentation in Europeans. 17952075 2007
Freckles
CUI: C0016689
Disease: Freckles
0.700 GeneticVariation GWASDB Genetic determinants of hair, eye and skin pigmentation in Europeans. 17952075 2007
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.010 GeneticVariation BEFREE The TYR Ser192Tyr was associated with SCC risk (OR, 1.23; 95% CI, 1.00-1.50). 19384953 2009