rs201259497

This variant is located in the SLC45A2 gene.

▶

GWAS Catalog Trait Associations (2)

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

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 4.58

p 3.0e-22

N 323,317

Major Consortium StudyLarge GWAS

European

strand of hair color

Jiang L et al. “A generalized linear mixed model association tool for biobank-scale data.” Nature Genetics 53(11):1616-1621 (2021)

Allele T

OR 2.37

p 5.0e-22

N 455,164

Large GWAS

European

▶

ClinVar annotation

Conflicting Classifications

2 submitters4 publications

View on ClinVar →

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]