rs11966200
This is a intron variant variant in the SLC44A4 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.
Vitiligo
Quan C et al. “Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.” Nature Genetics 42(7):614-8 (2010)
Allele A
OR 1.90
p 1.0e-48
N 2,546
Large GWAS
East Asian
▶ClinVar annotation
Benign★☆☆☆
2 submittersnot provided; Familial pancreatic carcinoma; Lymphoma; Nonpapillary renal cell carcinoma
View on ClinVar →About SLC44A4
The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
View all SLC44A4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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