rs2675345

This variant is located in the LOC124903485 gene.

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GWAS Catalog Trait Associations (4)

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

skin pigmentation

Batai K et al. “Genetic loci associated with skin pigmentation in African Americans and their effects on vitamin D deficiency.” Plos Genetics 17(2):e1009319 (2021)

Allele A

OR —

β 0.042

p 4.0e-30

N 395

Small GWAS

African American or Afro-Caribbean

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 3.89

p 3.0e-14

N 285

Small GWAS

multi-ancestry

metabolite measurement

Tahir UA et al. “Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.” Nature Communications 13(1):4923 (2022)

Allele G

OR 0.26

p 6.0e-13

N 2,466

Large GWAS

multi-ancestry

cutaneous melanoma, hair color

Landi MT et al. “Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.” Nature Genetics 52(5):494-504 (2020)

Allele A

OR —

p 1.0e-9

N 764,610

Large GWAS

European

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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

PubMed DOI Metascience Observatory

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