rs17362588
This is a variant in the CCDC141 gene that changes a arginine to an tryptophan.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
heart rate
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.09
p 2.0e-132
N 394,642
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 A
OR 0.10
p 5.0e-80
N 609,455
Major Consortium StudyLarge GWAS
multi-ancestry
den Hoed M et al. “Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.” Nature Genetics 45(6):621-31 (2013)
Allele A
OR 0.74
p 4.0e-26
N 92,355
Large GWAS
multi-ancestry
QRS duration
Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)
Allele A
OR 0.06
p 4.0e-31
N 60,343
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian
Prins BP et al. “Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.” Genome Biology 19(1):87 (2018)
Allele A
OR 0.45
p 6.0e-16
N 85,593
Meta-analysisLarge GWAS
multi-ancestry
diastolic blood pressure
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 A
OR 0.03
p 3.0e-24
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 A
OR 0.03
p 2.0e-15
N 928,679
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 A
OR 0.32
p 2.0e-13
N 459,777
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 A
OR 0.03
p 1.0e-16
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 A
OR 0.03
p 1.0e-9
N 174,664
Large GWAS
multi-ancestry
heart rate response to recovery post exercise
Verweij N et al. “Genetic study links components of the autonomous nervous system to heart-rate profile during exercise.” Nature Communications 9(1):898 (2018)
Allele G
OR 0.06
p 2.0e-9
N 58,818
Large GWAS
multi-ancestry
pulse pressure measurement
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 A
OR 0.26
p 1.0e-8
N 459,777
Large GWAS
multi-ancestry
▶ClinVar annotation
Benign★★★☆
3 submitters2 publicationsAbout CCDC141
Predicted to be involved in brain development. Predicted to act upstream of or within centrosome localization and cerebral cortex radially oriented cell migration. Predicted to be located in centrosome and cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all CCDC141 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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