Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs25531 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 72
rs104893877 0.614 0.360 4 89828149 missense variant C/T snv 59
rs875989800 0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1553920379 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs104893878 0.732 0.160 4 89835580 missense variant C/G snv 21
rs1566785444 0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 20
rs10938397 0.851 0.200 4 45180510 intergenic variant A/G snv 0.37 19
rs387906846 0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs63750215 0.701 0.240 1 226885603 missense variant A/T snv 19
rs80356537 0.752 0.320 19 41970405 missense variant C/A;G;T snv 17
rs63751438 0.776 0.120 17 46010388 missense variant C/T snv 16
rs121913470 0.776 0.200 17 39723967 missense variant T/C;G snv 13
rs1555582065 0.827 0.160 17 44212851 missense variant C/T snv 13
rs1800544 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 12
rs2283265 0.776 0.160 11 113414814 intron variant C/A snv 0.16 12
rs587776625 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
rs1799732 0.790 0.160 11 113475529 intron variant -/G delins 11
rs27072 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 11
rs1057518644 0.925 0.120 8 43192413 stop gained C/T snv 10
rs1481318368
TH
0.827 0.120 11 2169802 missense variant C/T snv 10
rs3746544 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 10