rs145215993

This is a intron variant variant in the ARHGEF10 gene.

GWAS Catalog Trait Associations (1)

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

rho guanine nucleotide exchange factor 10 measurement

Allele T
OR 0.25
p 3.0e-18
N 47,745
Large GWAS
European

About ARHGEF10

This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

View all ARHGEF10 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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