rs720475
This is a intron variant variant in the ARHGEF5 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
prostate carcinoma, breast carcinoma, ovarian carcinoma
Kar SP et al. “Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types.” Cancer Discovery 6(9):1052-67 (2016)
Allele A
OR 0.05
p 7.0e-12
N 237,334
Large GWAS
European
breast carcinoma
Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele G
OR 1.04
p 1.0e-11
N 139,274
Large GWAS
multi-ancestry
Shu X et al. “Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants.” Nature Communications 11(1):1217 (2020)
Allele G
OR 0.95
p 2.0e-11
N 277,932
Large GWAS
multi-ancestry
Michailidou K et al. “Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.” Nature Genetics 47(4):373-80 (2015)
Allele G
OR 1.06
p 4.0e-10
N 33,832
Large GWAS
European
Michailidou K et al. “Large-scale genotyping identifies 41 new loci associated with breast cancer risk.” Nature Genetics 45(4):353-61, 361e1-2 (2013)
Allele G
OR 1.06
p 7.0e-11
N 22,627
Large GWAS
European
breast cancer, ovarian carcinoma
Guo H et al. “A genome-wide cross-cancer meta-analysis highlights the shared genetic links of five solid cancers.” Frontiers in Microbiology 14:1116592 (2023)
Allele G
OR —
p 9.0e-11
N 295,401
Meta-analysisLarge GWAS
About ARHGEF5
Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]
View all ARHGEF5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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