rs61735998

This variant is located in the FHOD3 gene.

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GWAS Catalog Trait Associations (6)

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

heart rate

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 G
OR 0.13
p 8.0e-35
N 425,720
Major Consortium StudyLarge 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 G
OR 0.06
p 1.0e-24
N 394,642
Large GWAS
European
Eppinga RN et al. “Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.” Nature Genetics 48(12):1557-1563 (2016)
Allele G
OR 0.83
p 2.0e-14
N 134,251
Large GWAS
multi-ancestry

pulse pressure measurement

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 T
OR 0.44
p 4.0e-14
N 1,028,980
Large GWAS
multi-ancestry
Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)
Allele T
OR 0.50
p 2.0e-8
N 459,777
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 T
OR 0.52
p 2.0e-8
N 321,262
Large GWAS
multi-ancestry

heel bone mineral density

Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)
Allele G
OR 0.04
p 5.0e-12
N 426,824
Large GWAS
European

brain attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele T
OR 6.33
p 2.0e-10
N 33,748
Large GWAS
European

systolic blood pressure

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 0.04
p 3.0e-8
N 928,679
Large GWAS
multi-ancestry
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 T
OR 0.44
p 4.0e-8
N 1,028,980
Large GWAS
multi-ancestry

cup-to-disc ratio measurement

Alipanahi B et al. “Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology.” American Journal of Human Genetics 108(7):1217-1230 (2021)
Allele G
OR 0.01
p 1.0e-10
N 65,680
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
4 submitters1 publication

not provided; not specified; Lung cancer; Cervical cancer; Uterine corpus endometrial carcinoma; Colorectal cancer; Hepatocellular carcinoma; Nonpapillary renal cell carcinoma; Colon adenocarcinoma; Sarcoma; Cholangiocarcinoma; Malignant tumor of esophagus; Lymphoma; Thymoma; Thyroid cancer, nonmedullary, 1; Melanoma

View on ClinVar →

About FHOD3

The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]

View all FHOD3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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