Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs1801157 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 46
rs1057520009 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 14
rs724159947 0.851 0.120 12 11869601 missense variant C/T snv 6
rs1239105602 1.000 0.160 10 87864168 5 prime UTR variant C/T snv 2
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs724159946 1.000 12 11884541 missense variant G/A snv 7.0E-06 3
rs121918464 0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs78245253 1.000 3 128485850 missense variant G/A;C snv 4.0E-06; 5.0E-03 2
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 24
rs121918453 0.732 0.280 12 112450394 missense variant G/A;C;T snv 19
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs3745274 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs770692189 1.000 0.120 2 111123957 missense variant G/A;T snv 1.6E-05; 4.0E-06 2
rs11536889 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 27
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs397507514 0.790 0.240 12 112450408 missense variant G/C;T snv 10
rs1057519766 0.851 0.080 13 28028203 missense variant G/C;T snv 5
rs917927904 1.000 0.160 10 87864242 5 prime UTR variant G/T snv 7.0E-06 2
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs767464424 0.925 0.080 2 37222420 frameshift variant T/- delins 4.2E-06 3
rs5743551 0.742 0.240 4 38806033 intron variant T/A;C snv 12
rs267606706
CBL
0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 9
rs757874631
CBL
0.882 0.120 11 119278211 missense variant T/A;C snv 4