rs12143842

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (5)

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

JT interval

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 T
OR 0.20
p —
N 252,730
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian

QT interval

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 T
OR 0.20
p —
N 252,730
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian
Bihlmeyer NA et al. “ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.” Circulation. Genomic and Precision Medicine 11(1):e001758 (2018)
Allele T
OR 3.18
p 3.0e-255
N 95,626
Large GWAS
multi-ancestry
Arking DE et al. “Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.” Nature Genetics 46(8):826-36 (2014)
Allele T
OR 3.50
p 1.0e-213
N 71,061
Large GWAS
European
van Duijvenboden S et al. “Genomic and pleiotropic analyses of resting QT interval identifies novel loci and overlap with atrial electrical disorders.” Human Molecular Genetics 30(24):2513-2523 (2021)
Allele T
OR 0.12
p 2.0e-69
N 24,495
Large GWAS
European
Méndez-Giráldez R et al. “GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.” Scientific Reports 7(1):17075 (2017)
Allele T
OR 3.46
p 3.0e-42
N 15,997
Large GWAS
Hispanic or Latin American
Pfeufer A et al. “Common variants at ten loci modulate the QT interval duration in the QTSCD Study.” Nature Genetics 41(4):407-14 (2009)
Allele T
OR 2.88
p 2.0e-78
N 15,842
Large GWAS
European
Newton-Cheh C et al. “Common variants at ten loci influence QT interval duration in the QTGEN Study.” Nature Genetics 41(4):399-406 (2009)
Allele T
OR 3.15
p 2.0e-78
N 13,685
Large GWAS
European
Smith JG et al. “Impact of ancestry and common genetic variants on QT interval in African Americans.” Circulation. Cardiovascular Genetics 5(6):647-55 (2012)
Allele T
OR 3.14
p 2.0e-15
N 13,105
Large GWAS
African American or Afro-Caribbean
Nolte IM et al. “Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies.” Plos One 4(7):e6138 (2009)
Allele T
OR 0.18
p 1.0e-83
N 3,558
Meta-analysis
European
Sano M et al. “Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.” Human Molecular Genetics 23(24):6668-76 (2014)
Allele T
OR 3.89
p 4.0e-18
N 2,994
Large GWAS
East Asian

familial long QT syndrome

Lahrouchi N et al. “Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.” Circulation 142(4):324-338 (2020)
Allele T
OR 1.32
p 1.0e-11
N 11,492
Large GWAS
multi-ancestry

electrocardiography

Verweij N et al. “The Genetic Makeup of the Electrocardiogram.” Cell Systems 11(3):229-238.e5 (2020)
Allele C
OR 0.11
p 1.0e-62
N 63,706
Major Consortium StudyLarge GWAS
European, NR

T wave morphology measurement

Ramírez J et al. “Cardiovascular Predictive Value and Genetic Basis of Ventricular Repolarization Dynamics.” Circulation. Arrhythmia and Electrophysiology 12(10):e007549 (2019)
Allele C
OR 0.05
p 2.0e-13
N 51,574
Large GWAS
European

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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