rs183671
This is a intron variant variant in the SLC45A2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Abnormality of skin pigmentation
Liu F et al. “Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.” Human Genetics 134(8):823-35 (2015)
Allele T
OR —
β 0.021
p 1.0e-9
N 5,857
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout 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]
View all SLC45A2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…