Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
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
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
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
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs833061 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
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
rs1045485 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34