rs11684885

This variant is located in the EPAS1 gene.

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GWAS Catalog Trait Associations (1)

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 T

OR 0.02

p 3.0e-11

N 252,730

Large GWAS

European, African unspecified, Hispanic or Latin American, South East Asian, South Asian

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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