rs34447953
This is a regulatory region variant variant in the ARHGAP29 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Hepatitis
Gelemanović A et al. “Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk.” International Journal of Molecular Sciences 24(8) (2023)
Allele A
OR 1.12
p 8.0e-10
N 4,624
Meta-analysis
European
About ARHGAP29
Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]
View all ARHGAP29 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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