rs871841

This variant is located in the ARHGEF15 gene.

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GWAS Catalog Trait Associations (8)

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

hematocrit

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele C
OR 0.02
p 1.0e-37
N 562,259
Large GWAS
European
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 2.0e-17
N 408,112
Large GWAS
European

serum gamma-glutamyl transferase measurement

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 T
OR 0.01
p 1.0e-20
N 928,679
Large GWAS
multi-ancestry
Ghouse J et al. “Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.” Nature Genetics 56(5):827-837 (2024)
Allele T
OR 0.00
p 4.0e-12
N 875,069
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.01
p 2.0e-14
N 394,642
Large GWAS
European

hemoglobin measurement

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 2.0e-20
N 408,112
Large GWAS
European
Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele C
OR —
β 0.017
p 5.0e-15
N 684,122
Large GWAS
European

high density lipoprotein cholesterol measurement

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 0.01
p 2.0e-17
N 394,642
Large GWAS
European

total cholesterol measurement

Liu DJ et al. “Exome-wide association study of plasma lipids in >300,000 individuals.” Nature Genetics 49(12):1758-1766 (2017)
Allele C
OR 0.02
p 6.0e-16
N 297,824
Large GWAS
multi-ancestry

BMI-adjusted waist-hip ratio

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele C
OR 0.02
p 8.0e-10
N 219,872
Major Consortium StudyLarge GWAS
European

low density lipoprotein cholesterol measurement

Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)
Allele T
OR 0.01
p 2.0e-8
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry

Microscopic hematuria

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 2.0e-11
N 435,367
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★★★☆
3 submitters2 publications

not provided; Early-infantile DEE

View on ClinVar →

About ARHGEF15

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010]

View all ARHGEF15 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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