Variant: rs11976235 

    present in Gene: EPO
    present in Chromosome: 7
    Position on Chromosome: 100722758
    Alleles of this Variant: C/T

rs11976235 in EPO gene and ERYTHROCYTOSIS, FAMILIAL, 5 PMID 29514032 2018 A Gain-of-Function Mutation in EPO in Familial Erythrocytosis.

PMID 27651169 2016 Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.