rs34451818

This is a regulatory region variant variant in the AIF1 gene.

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GWAS Catalog Trait Associations (1)

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

cancer

Rashkin SR et al. “Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.” Nature Communications 11(1):4423 (2020)

Allele G

OR 1.26

p 1.0e-9

N 475,312

Large GWAS

European

About AIF1

This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]

View all AIF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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