Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs2010963 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs1800469 0.547 0.760 19 41354391 intron variant A/G snv 0.69 78
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs3212227 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 65
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs3025039 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
rs1143627 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 47
rs121913273 0.605 0.440 3 179218294 missense variant G/A;C snv 44
rs3761548 0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42