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
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs53576 0.641 0.320 3 8762685 intron variant A/G;T snv 42
rs6318 0.623 0.520 X 114731326 missense variant C/G;T snv 42
rs1051266 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs121909224 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 41
rs1360780 0.708 0.320 6 35639794 intron variant T/A;C snv 31
rs137854539 0.716 0.520 20 58903703 missense variant C/T snv 28
rs4818 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 27
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs1057518083 0.851 0.120 14 101986552 missense variant C/T snv 21
rs1085307845 0.752 0.320 6 79025582 missense variant G/T snv 21
rs1344706 0.701 0.160 2 184913701 intron variant A/C;T snv 21
rs1554210073 0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1562114190 0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs5569 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 19
rs1131691771 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 18
rs121913293 0.732 0.360 10 87952142 missense variant C/A;T snv 18
rs1555565492 0.776 0.160 17 17795417 frameshift variant -/G delins 18
rs1555640521 0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs121913294 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 14
rs1555247672 0.827 0.200 12 116007542 stop gained G/A snv 14
rs1562150844 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 14
rs587776667 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 14
rs1562134961 0.776 0.320 6 78969879 frameshift variant A/- delins 13