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
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
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
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs6318 0.623 0.520 X 114731326 missense variant C/G;T snv 42
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs746682028 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 36
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs1344706 0.701 0.160 2 184913701 intron variant A/C;T snv 21
rs1718119 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 21
rs1555454508 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs312262717 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs1445081098 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 17
rs174576 0.851 0.200 11 61836038 intron variant C/A;T snv 14
rs3730358 0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03 14
rs6994992 0.790 0.120 8 31638065 upstream gene variant C/A;T snv 13
rs3751143 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 12
rs2535629 0.827 0.040 3 52799203 intron variant G/A;C snv 9
rs779867 0.776 0.120 3 7442784 intron variant T/C;G snv 9
rs1469698992 0.776 0.080 9 131190453 missense variant G/A snv 8
rs2279574 0.827 0.120 12 89351700 missense variant C/A;T snv 0.52 8
rs1194897557 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 7