Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201478192
rs201478192
0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.040 1.000 4 2013 2015