Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1137101 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs1801265 0.763 0.280 1 97883329 missense variant A/G snv 0.28 13
rs150726175 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 11
rs67376798 0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03 9
rs370244148 0.882 0.160 1 112514896 stop gained C/A;T snv 1.6E-05; 1.2E-05 6
rs7548189 0.882 0.160 1 97402157 intron variant C/A snv 0.19 4
rs17376848 0.925 0.040 1 97450068 synonymous variant A/G snv 5.1E-02 4.3E-02 3
rs1360182594 1 11790755 synonymous variant G/A snv 4.0E-06 1
rs2151222 1 206480926 intron variant A/G snv 0.28 1
rs56038477 1 97573863 synonymous variant C/T snv 1.4E-02 1.3E-02 1
rs4124874 0.851 0.120 2 233757013 intron variant T/A;G snv 8
rs1042597 2 233618225 missense variant C/G;T snv 0.27; 4.0E-06 3
rs1458320839 2 219218640 missense variant C/A;T snv 1
rs17868320 2 233669782 intron variant C/T snv 4.0E-02 1
rs1801019 0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19 4
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs2231137 0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 13
rs769107320 4 69108277 missense variant G/A;C snv 1
rs10474485 1.000 0.040 5 76975028 intron variant C/A snv 0.26 2
rs201253747 1.000 0.040 5 148483142 3 prime UTR variant A/G snv 2.1E-03 2
rs12513549 5 80781309 intron variant G/T snv 0.13 1
rs33013 5 80764197 intron variant G/A snv 0.35 1
rs6151627 5 80669717 intron variant A/G snv 0.23 1