rs35391

This is a intron variant variant in the SLC45A2 gene.

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GWAS Catalog Trait Associations (2)

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

suntan

Nan H et al. “Genome-wide association study of tanning phenotype in a population of European ancestry.” The Journal of Investigative Dermatology 129(9):2250-7 (2009)

Allele T

OR 0.44

p 3.0e-10

N 2,287

Large GWAS

European

hair color

Lona-Durazo F et al. “A large Canadian cohort provides insights into the genetic architecture of human hair colour.” Communications Biology 4(1):1253 (2021)

Allele T

OR 0.72

p 9.0e-10

N 12,398

Large GWAS

European

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Research that mentions this SNP (1)

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The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism

ReviewOetting WS et al.(2009)· American Journal of Medical Genetics Part A

Genome-wide association studies and comparative genomics have identified major pigmentation loci (SLC24A5, SLC45A2, TYR, OCA2, MC1R, IRF4, TPCN2) showing evidence of strong natural selection in human populations. Light skin variants in Europeans and Asians underwent complete or near-complete selective sweeps, with SLC24A5 rs1426654 and SLC45A2 variants representing independent evolutionary mechanisms. Critical skin-lightening variants arose 11,000-30,000 years ago during human demographic expansion, driven by UV radiation exposure, vitamin D synthesis requirements, and possibly sexual selection.

Traits studied:Basal cell carcinomaCutaneous melanomaEye colorHair colorMelanin contentOculocutaneous albinismPigmentationRed hairSkin color

PubMed DOI Metascience Observatory

About SLC45A2

This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]