Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1001761 1.000 0.080 18 662103 intron variant G/A snv 0.50 0.55 2
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1043673 19 55000864 missense variant C/A snv 0.37 0.39 2
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs11191439 0.851 0.120 10 102878966 missense variant T/A;C snv 9.2E-02 6
rs11191979 10 104265109 intron variant T/C snv 0.23 1
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1133400 1.000 0.080 10 132645884 missense variant A/G snv 0.22 0.18 4
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs113835371 17 50353660 missense variant G/A snv 9.3E-03 1.0E-02 1
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs121913521
KIT
0.790 0.120 4 54727447 missense variant T/A;C;G snv 12
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs12919719 16 68788438 intron variant C/G snv 0.25 1
rs1540087 1.000 0.080 11 72190447 5 prime UTR variant G/A snv 3.8E-02 2
rs156697 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 25
rs157077 1.000 0.080 10 104278136 intron variant T/C snv 0.45 0.53 3
rs1650697 0.925 0.120 5 80654962 missense variant A/G;T snv 0.86 3
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246