rs72607876

This variant is located in the FGF12 gene.

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GWAS Catalog Trait Associations (1)

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

anti-GAD65 autoimmune neurological syndromes

Strippel C et al. “A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies.” Brain : a Journal of Neurology 146(3):977-990 (2023)
Allele T
OR 2.76
p 9.0e-9
N 1,214
Large GWAS
European

About FGF12

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. [provided by RefSeq, Dec 2019]

View all FGF12 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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