rs604723

This is a regulatory region variant variant in the ARHGAP42 gene.

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GWAS Catalog Trait Associations (16)

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

systolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)

Allele C

OR 0.54

p 2.0e-86

N 1,028,980

Large GWAS

multi-ancestry

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)

Allele C

OR 0.04

p 2.0e-79

N 1,212,859

Large GWAS

European

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele C

OR 0.03

p 4.0e-69

N 928,679

Large GWAS

multi-ancestry

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 5.0e-41

N 394,642

Large GWAS

European

Yang ML et al. “Sex-specific genetic architecture of blood pressure.” Nature Medicine 30(3):818-828 (2024)

Allele C

OR 0.04

p 2.0e-30

N 174,664

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 0.52

p 7.0e-12

N 130,777

Large GWAS

multi-ancestry

diastolic blood pressure

Allele C

OR 0.33

p 4.0e-85

N 1,028,980

Large GWAS

multi-ancestry

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)

Allele C

OR 0.04

p 4.0e-82

N 1,212,859

Large GWAS

European

Allele C

OR 0.03

p 9.0e-65

N 928,679

Large GWAS

multi-ancestry

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 0.03

p 3.0e-42

N 485,677

Large GWAS

multi-ancestry

Yang ML et al. “Sex-specific genetic architecture of blood pressure.” Nature Medicine 30(3):818-828 (2024)

Allele C

OR 0.04

p 5.0e-28

N 174,664

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

hypertension

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 0.08

p 9.0e-48

N 394,626

Large GWAS

European

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele C

OR 0.07

p 1.0e-25

N 404,034

Major Consortium StudyLarge 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 0.08

p 8.0e-10

N 50,792

Large GWAS

multi-ancestry

Agents acting on the renin-angiotensin system use measurement

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 T

OR 0.09

p 2.0e-36

N 237,530

Major Consortium StudyLarge GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele T

OR 0.07

p 4.0e-35

N 416,256

Large GWAS

multi-ancestry

pulse pressure measurement

Allele C

OR 0.23

p 3.0e-33

N 1,028,980

Large GWAS

multi-ancestry

hypertension, Antihypertensive use measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele T

OR 0.07

p 6.0e-24

N 404,034

Major Consortium StudyLarge GWAS

multi-ancestry

coronary artery disease

Jordà P et al. “Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases.” Npj Genomic Medicine 10(1):65 (2025)

Allele C

OR 9.01

p 2.0e-19

N 310,368

Large GWAS

European

van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)

Allele C

OR 0.04

p 3.0e-9

N 296,525

Large GWAS

diastolic blood pressure change measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele T

OR 0.03

p 2.0e-19

N 609,486

Major Consortium StudyLarge GWAS

multi-ancestry

appendicular lean mass

Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)

Allele T

OR 0.02

p 8.0e-15

N 450,243

Major Consortium StudyLarge GWAS

European

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele T

OR 0.01

p 4.0e-14

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

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]

rs604723

GWAS Catalog Trait Associations (16)

systolic blood pressure

diastolic blood pressure

hypertension

Agents acting on the renin-angiotensin system use measurement

pulse pressure measurement

hypertension, Antihypertensive use measurement

coronary artery disease

diastolic blood pressure change measurement

appendicular lean mass

body height

About ARHGAP42

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