rs62638745, EPOR

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Erythrocytosis familial, 1
CUI: C4551637
Disease: Erythrocytosis familial, 1
14 0.882 0.080 19 11378051 missense variant T/C snv 6.3E-03 6.2E-03 0.700 1.000 3 1993 2012
Acute Erythroblastic Leukemia
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
5 0.882 0.080 19 11378051 missense variant T/C snv 6.3E-03 6.2E-03 0.700 0
Polycythemia
CUI: C0032461
Disease: Polycythemia
22 0.882 0.080 19 11378051 missense variant T/C snv 6.3E-03 6.2E-03 0.010 1.000 1 1996 1996