rs185146

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.

nevus count, cutaneous melanoma

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 C

OR —

p 2.0e-66

N 477,725

Large GWAS

European

aging rate

Law MH et al. “Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin Aging.” The Journal of Investigative Dermatology 137(9):1887-1894 (2017)

Allele T

OR 0.25

p 4.0e-9

N 5,087

Large GWAS

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ClinVar annotation

Benign★☆☆☆

1 submitter

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]