Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913614
rs121913614
0.790 0.120 1 43349308 missense variant G/A snv
CUI: C3275998
Disease: THROMBOCYTHEMIA 2
THROMBOCYTHEMIA 2
0.800 1.000 4 2004 2015
dbSNP: rs121913615
rs121913615
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C3275998
Disease: THROMBOCYTHEMIA 2
THROMBOCYTHEMIA 2
0.700 1.000 4 2004 2015
dbSNP: rs146249964
rs146249964
0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04
CUI: C3275998
Disease: THROMBOCYTHEMIA 2
THROMBOCYTHEMIA 2
0.700 0
dbSNP: rs750046020
rs750046020
0.827 0.080 1 43338646 missense variant C/G;T snv 8.0E-06; 8.0E-05
CUI: C3275998
Disease: THROMBOCYTHEMIA 2
THROMBOCYTHEMIA 2
0.700 0