rs1886512

This is a regulatory region variant variant in the KLF12 gene.

▶

GWAS Catalog Trait Associations (5)

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

QRS duration

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 0.37
p 5.0e-26
N 85,593
Meta-analysisLarge GWAS
multi-ancestry

atrial fibrillation

Yuan S et al. “Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.” Nature Communications 16(1):6426 (2025)
Allele A
OR 0.04
p 3.0e-24
N 1,840,341
Large GWAS
European
Miyazawa K et al. “Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction.” Nature Genetics 55(2):187-197 (2023)
Allele A
OR 0.04
p 6.0e-9
N 2,339,188
Large GWAS
multi-ancestry

QT interval

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 A
OR 0.57
p 2.0e-10
N 95,626
Large GWAS
multi-ancestry

heart function attribute

Sotoodehnia N et al. “Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.” Nature Genetics 42(12):1068-76 (2010)
Allele A
OR 0.40
p 1.0e-8
N 40,407
Large GWAS
European

electrocardiography

Verweij N et al. “The Genetic Makeup of the Electrocardiogram.” Cell Systems 11(3):229-238.e5 (2020)
Allele T
OR 0.08
p 7.0e-40
N 63,706
Major Consortium StudyLarge GWAS
European, NR

About KLF12

Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all KLF12 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…