rs35414

This is a upstream gene 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.

skin sensitivity to sun

Farré X et al. “Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort.” Genes 14(1) (2023)

Allele T

OR 0.11

p 5.0e-10

N 4,973

Large GWAS

European

skin pigmentation

Farré X et al. “Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort.” Genes 14(1) (2023)

Allele T

OR 0.11

p 3.0e-14

N 4,933

Large GWAS

European

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Research that mentions this SNP (1)

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SLC45A2: a novel malignant melanoma-associated gene

AssociationN=376Fernandez LP et al.(2008)· Human Mutation

A Spanish case-control study (131 melanoma patients, 245 controls) investigated 23 SNPs in six pigmentation genes (ASP, OCA2, TYR, TYRP1, SILV, SLC45A2) for melanoma susceptibility. The variant allele of SLC45A2 c.1122C>G (p.Phe374Leu, rs16891982) was associated with protection from melanoma (OR 0.41, 95% CI 0.24-0.70, adjusted P=0.008), validated by associations with dark hair, skin, and eye color.

Traits studied:Childhood sunburnsEye colorHair colorMalignant melanomaPhototypeSkin colorSolar lentiginesTumor depth (Breslow index)Tumor location

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]