EPO, erythropoietin, 2056

N. diseases: 646; N. variants: 11
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201051019
rs201051019
1.000 0.040 7 100722981 missense variant G/A snv
CUI: C0032461
Disease: Polycythemia
Polycythemia
Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005