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: rs1200469268
rs1200469268
0.925 0.080 9 104830968 missense variant C/A snv 7.0E-06
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.010 1.000 1 2019 2019