rs117204628

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GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

keratinocyte carcinoma

Liyanage UE et al. “Combined analysis of keratinocyte cancers identifies novel genome-wide loci.” Human Molecular Genetics 28(18):3148-3160 (2019)

Allele T

OR 1.23

p 7.0e-22

N 358,840

Large GWAS

European

skin pigmentation

Vollenbrock CE et al. “Genome-wide association study identifies novel loci associated with skin autofluorescence in individuals without diabetes.” Bmc Genomics 23(1):840 (2022)

Allele T

OR 0.02

p 3.0e-15

N 27,254

Large GWAS

European

basal cell carcinoma

Adolphe C et al. “Genetic and functional interaction network analysis reveals global enrichment of regulatory T cell genes influencing basal cell carcinoma susceptibility.” Genome Medicine 13(1):19 (2021)

Allele T

OR 0.16

p 1.0e-8

N 392,871

Large GWAS

European

hair color

Morgan MD et al. “Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.” Nature Communications 9(1):5271 (2018)

Allele T

OR 3.55

p 4.0e-11

N 299,651

Major Consortium StudyLarge GWAS

European

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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