Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
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
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
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs1801274 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 46
rs121913355 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs775144154 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs909253 0.641 0.600 6 31572536 intron variant A/G;T snv 34
rs368087026 0.637 0.520 21 45530890 missense variant G/A snv 33
rs886039484 0.641 0.440 17 7674888 missense variant T/C;G snv 32
rs2230926 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 27
rs121913338 0.677 0.400 7 140753354 missense variant T/A;C;G snv 24
rs1057520001 0.677 0.360 17 7674886 missense variant A/C;G snv 23
rs1448674651 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 23
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv 21
rs16917496 0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv 21
rs4245739 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 21