rs6882776

This variant is located in the NKX2-5 gene.

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GWAS Catalog Trait Associations (3)

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

atrial fibrillation

Cárcel-Márquez J et al. “A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype.” Frontiers in Cardiovascular Medicine 9:940696 (2022)
Allele A
OR 0.01
p 1.0e-22
N 1,030,836
Large GWAS
European
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 0.01
p 5.0e-21
N 1,486,094
Large GWAS
European
Roselli C et al. “Multi-ethnic genome-wide association study for atrial fibrillation.” Nature Genetics 50(9):1225-1233 (2018)
Allele A
OR 1.06
p 3.0e-14
N 588,190
Large GWAS
multi-ancestry

TPE interval measurement

Ramírez J et al. “Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval.” American Journal of Human Genetics 106(6):764-778 (2020)
Allele G
OR 0.04
p 2.0e-14
N 71,338
Large GWAS
European

heart rate

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 G
OR 0.30
p 2.0e-12
N 92,355
Large GWAS
multi-ancestry

About NKX2-5

This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

View all NKX2-5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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