Variant: rs137853036 

    present in Gene: EPAS1
    present in Chromosome: 2
    Position on Chromosome: 46380281
    Alleles of this Variant: G/A;T

rs137853036 in EPAS1 gene and Erythrocytosis, Familial, 4 PMID 22367913 2012 Two new mutations in the HIF2A gene associated with erythrocytosis.

PMID 18184961 2008 A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.

PMID 22274579 2012 Clinical utility gene card for: familial erythrocytosis.

PMID 19208626 2009 Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.

PMID 18378852 2008 Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.