Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs56149945 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 49
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
rs28934578 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs121912664 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 44
rs121913273 0.605 0.440 3 179218294 missense variant G/A;C snv 44
rs121913343 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 44
rs3743930 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 43
rs121913355 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs3761548 0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs833061 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs121909224 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 41
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs79184941 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 41
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs1801278 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 38
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs121913233 0.627 0.520 11 533874 missense variant T/A;C;G snv 37
rs1800925 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 37
rs28934575 0.641 0.400 17 7674230 missense variant C/A;G;T snv 37
rs1444669684 0.658 0.480 9 21994285 missense variant C/A;T snv 36