Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs7656411 0.790 0.320 4 153706503 downstream gene variant T/G snv 0.35 8
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs777017502 0.925 0.080 2 37222420 missense variant T/C;G snv 4.2E-06; 4.2E-06 3
rs387906664
CBL
1.000 11 119278220 missense variant T/C;G snv 2
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs387907272 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs2229094 0.776 0.320 6 31572779 missense variant T/C snv 0.27 0.27 17
rs2285489 9 133424254 intron variant T/C snv 0.68 2
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
rs1801271 5 150054082 missense variant T/A;C snv 2
rs767464424 0.925 0.080 2 37222420 frameshift variant T/- delins 4.2E-06 3
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs917927904 1.000 0.160 10 87864242 5 prime UTR variant G/T snv 7.0E-06 2
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
rs11536889 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 27
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
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 24