Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555706928 0.851 0.240 18 44951954 missense variant G/A snv 8
rs363050 0.790 0.240 20 10253609 intron variant G/A snv 0.57 8
rs864309505 0.807 0.200 11 6615220 missense variant T/G snv 10
rs12273363 0.807 0.120 11 27723312 intron variant T/C snv 0.16 11
rs1554901898 0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs869320624 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 13
rs1057516264 0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs1990622 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 16
rs139632595 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs28936415 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs63750231 0.689 0.160 14 73198100 missense variant A/C;G snv 23
rs405509 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 30
rs1043679457 0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs146539065 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs776969714 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs63751273 0.645 0.280 17 46010389 missense variant C/T snv 42
rs796052243 0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272