Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2239704 0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 17
rs13347 0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 12
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
rs121918453 0.732 0.280 12 112450394 missense variant G/A;C;T snv 19
rs121918454 0.742 0.280 12 112450395 missense variant C/A;G;T snv 17
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs5743551 0.742 0.240 4 38806033 intron variant T/A;C snv 12
rs397507514 0.790 0.240 12 112450408 missense variant G/C;T snv 10
rs267606706
CBL
0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 9
rs3921 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 8
rs1057520009 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 14
rs757333753 0.851 0.200 3 12618681 missense variant C/A;T snv 4.0E-06 6
rs779530981 1.000 0.160 10 87933035 missense variant C/A snv 4
rs1114167651 1.000 0.160 10 87933107 missense variant C/A;T snv 4.0E-06 2
rs1239105602 1.000 0.160 10 87864168 5 prime UTR variant C/T snv 2
rs917927904 1.000 0.160 10 87864242 5 prime UTR variant G/T snv 7.0E-06 2
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv 9
rs724159947 0.851 0.120 12 11869601 missense variant C/T snv 6
rs757874631
CBL
0.882 0.120 11 119278211 missense variant T/A;C snv 4
rs770692189 1.000 0.120 2 111123957 missense variant G/A;T snv 1.6E-05; 4.0E-06 2
rs1057519766 0.851 0.080 13 28028203 missense variant G/C;T snv 5
rs767464424 0.925 0.080 2 37222420 frameshift variant T/- delins 4.2E-06 3
rs777017502 0.925 0.080 2 37222420 missense variant T/C;G snv 4.2E-06; 4.2E-06 3
rs1800023 1.000 0.040 3 46370817 intron variant A/G snv 0.29 2