rs633185

This is a intron variant variant in the ARHGAP42 gene.

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GWAS Catalog Trait Associations (11)

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

mean arterial pressure

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.03
p 3.0e-50
N 506,365
Large GWAS
multi-ancestry
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele G
OR 0.39
p 3.0e-13
N 130,777
Large GWAS
multi-ancestry
Wain LV et al. “Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.” Nature Genetics 43(10):1005-11 (2011)
Allele G
OR 0.33
p 7.0e-10
N 74,064
Large GWAS
European

diastolic blood pressure

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.03
p 1.0e-37
N 394,642
Large GWAS
European
Ehret GB et al. “The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.” Nature Genetics 48(10):1171-1184 (2016)
Allele C
OR 0.29
p 2.0e-12
N 201,529
Large GWAS
European
Wain LV et al. “Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.” Hypertension (dallas, Tex. : 1979) 70(3):e4-e19 (2017)
Allele C
OR 0.27
p 2.0e-8
N 150,134
Large GWAS
multi-ancestry
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele C
OR 0.33
p 9.0e-12
N 130,777
Large GWAS
multi-ancestry
Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele C
OR 0.21
p 2.0e-8
N 99,785
Large GWAS
multi-ancestry
Ehret GB et al. “Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.” Nature 478(7367):103-9 (2011)
Allele C
OR 0.33
p 2.0e-15
N 69,395
Large GWAS
European

Calcium channel blocker use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.06
p 1.0e-24
N 383,104
Large GWAS
multi-ancestry
Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele C
OR 0.09
p 6.0e-24
N 204,378
Major Consortium StudyLarge GWAS
European

reticulocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.02
p 5.0e-22
N 408,112
Large GWAS
European

reticulocyte amount

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.02
p 5.0e-21
N 408,112
Large GWAS
European

pulse pressure measurement

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele G
OR 0.22
p 1.0e-15
N 321,262
Large GWAS
multi-ancestry

coronary artery disease

Aragam KG et al. “Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.” Nature Genetics 54(12):1803-1815 (2022)
Allele C
OR 1.04
p 6.0e-13
N 1,165,690
Large GWAS
European, NR
Zhou W et al. “Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.” Nature Genetics 50(9):1335-1341 (2018)
Allele C
OR —
p 9.0e-9
N 408,458
Large GWAS
European

hypertension

Ehret GB et al. “Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.” Nature 478(7367):103-9 (2011)
Allele G
OR —
β 0.070
p 5.0e-11
N 69,395
Large GWAS
European
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele G
OR 0.08
p 5.0e-10
N 50,792
Large GWAS
multi-ancestry

About ARHGAP42

This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded protein inhibits RhoA activity to regulate vascular tone and control blood pressure. A mutation in the first intron of this gene modulates its expression and is associated with reduced blood pressure in human patients with borderline hypertension. [provided by RefSeq, Jul 2017]

View all ARHGAP42 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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