rs1265883

This is a intron variant variant in the SLAMF6 gene.

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GWAS Catalog Trait Associations (1)

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

Graves disease

Zhao SX et al. “Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.” Human Molecular Genetics 22(16):3347-62 (2013)

Allele C

OR 1.34

p 2.0e-18

N 2,910

Large GWAS

East Asian

About SLAMF6

The protein encoded by this gene is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It functions as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]

View all SLAMF6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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