rs6602666

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (1)

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

Abnormality of skin pigmentation

Hernandez-Pacheco N et al. “Identification of a novel locus associated with skin colour in African-admixed populations.” Scientific Reports 7:44548 (2017)
Allele G
OR 4.03
p 5.0e-9
N 285
Small GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Polymorphisms upstream of the melanocortin‐1 receptor coding region are associated with human pigmentation variation in a Brazilian population
AssociationN=658Vanessa Neitzke‐Montinelli et al.(2012)· American Journal of Human Biology

This genome-wide association study of skin color in 285 Puerto Rican Hispanics/Latinos identified 82 suggestive variants, of which 14 replicated in 373 African Americans. Meta-analysis confirmed associations at SLC24A5 (rs1426654, p=2.62×10⁻¹⁴), SLC45A2 (rs16891982, p=9.71×10⁻¹⁰), and revealed a novel locus in the BEND7/PRPF18 intergenic region (rs6602666, p=4.58×10⁻⁹) that is prevalent in African-descent populations but absent in Europeans and Native Americans.

Traits studied:Melanin levelsSkin colorSkin pigmentation
PubMedDOIMetascience Observatory

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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