rs137853036, EPAS1

N. diseases: 2
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, 4
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
2 0.925 0.040 2 46380281 missense variant G/A;T snv 0.800 1.000 5 2008 2012
Polycythemia
CUI: C0032461
Disease: Polycythemia
22 0.925 0.040 2 46380281 missense variant G/A;T snv 0.010 1.000 1 2017 2017