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
rs2430561 0.590 0.760 12 68158742 intron variant T/A snv 0.36 50
rs6318 0.623 0.520 X 114731326 missense variant C/G;T snv 42
rs6295 0.645 0.200 5 63962738 intron variant C/G snv 0.49 40
rs1801260 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 28
rs1006737 0.695 0.120 12 2236129 intron variant G/A snv 0.36 27
rs165599 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 27
rs1333048 0.683 0.320 9 22125348 intron variant A/C snv 0.44 24
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
rs334558 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 20
rs4696480 0.716 0.400 4 153685974 intron variant T/A snv 0.45 19
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
rs3749474 0.724 0.320 4 55434518 3 prime UTR variant C/T snv 0.33 17
rs1611115
DBH
0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 16
rs6198 0.724 0.480 5 143278056 3 prime UTR variant T/C snv 0.12 16
rs1333045 0.776 0.280 9 22119196 non coding transcript exon variant T/C snv 0.50 14
rs1625579 0.763 0.160 1 98037378 intron variant G/T snv 0.78 14
rs174576 0.851 0.200 11 61836038 intron variant C/A;T snv 14
rs11191580 0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02 13
rs135745 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 13
rs6994992 0.790 0.120 8 31638065 upstream gene variant C/A;T snv 13
rs10994336 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 12
rs1130214 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 12