Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0152264
Disease:
Familial erythrocytosis
0.010 GeneticVariation BEFREE The Gly537Arg missense mutation has already been described in familial erythrocytosis. 23716564 2014