Source: ALL

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: rs3808850
rs3808850
JAK2
0.925 0.080 9 4983311 upstream gene variant T/A;C snv
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2008 2008
dbSNP: rs3808850
rs3808850
JAK2
0.925 0.080 9 4983311 upstream gene variant T/A;C snv
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.010 1.000 1 2008 2008