rs9573330

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

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GWAS Catalog Trait Associations (2)

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

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 0.05
p 1.0e-49
N 60,343
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian
Evans DS et al. “Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans.” Human Molecular Genetics 25(19):4350-4368 (2016)
Allele A
OR 0.40
p 4.0e-10
N 53,438
Large 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 2.0e-25
N 2,584,013
Large GWAS
multi-ancestry
Roselli C et al. “Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.” Nature Genetics 57(3):539-547 (2025)
Allele A
OR 1.03
p 1.0e-9
N 1,650,345
Meta-analysisLarge GWAS
multi-ancestry

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.

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