rs11894252

This is a regulatory region variant variant in the EPAS1 gene.

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GWAS Catalog Trait Associations (3)

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 0.02
p 1.0e-12
N 252,730
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian

PR interval

Ntalla I et al. “Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.” Nature Communications 11(1):2542 (2020)
Allele T
OR 0.45
p 2.0e-12
N 292,566
Large GWAS
multi-ancestry

P wave duration

Christophersen IE et al. “Fifteen Genetic Loci Associated With the Electrocardiographic P Wave.” Circulation. Cardiovascular Genetics 10(4) (2017)
Allele T
OR 0.52
p 1.0e-9
N 44,456
Large GWAS
multi-ancestry

About EPAS1

This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]

View all EPAS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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