rs11696169

This is a intron variant variant in the SAMHD1 gene.

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GWAS Catalog Trait Associations (1)

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

suntan

Visconti A et al. “Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.” Nature Communications 9(1):1684 (2018)

Allele C

OR 0.19

p 1.0e-44

N 121,296

Large GWAS

European

About SAMHD1

This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]

View all SAMHD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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