rs137853036, EPAS1

N. diseases: 2
Disease: Polycythemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polycythemia
CUI: C0032461
Disease: Polycythemia
0.010 GeneticVariation BEFREE Firstly, we identified a rare but well studied germline mutation resulting in polycythemia in HIF2A (c.1609G>A, p.Gly537Arg) in the blood of the patient and his daughter. 29172931 2017