Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507520 0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs1043679457 0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs1034395178 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1555575860 0.732 0.240 16 70496367 missense variant C/G;T snv 31
rs312262690 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs1060499548 0.724 0.440 9 130872961 missense variant G/A snv 27
rs1554389088 0.807 0.160 7 44243526 missense variant G/A snv 27
rs137854539 0.716 0.520 20 58903703 missense variant C/T snv 27
rs121918460 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs397517148 0.776 0.200 2 39023128 missense variant C/T snv 26
rs1057518345 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs80338903 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs1555954284 0.752 0.360 X 41346607 missense variant C/T snv 24
rs61816761 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 24
rs142239530 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1555429629 0.763 0.200 15 40729632 missense variant G/A snv 23
rs387907260 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs796052686 0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs527656756 0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 21
rs879253753 0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs587783446 0.763 0.280 8 60850546 stop gained C/T snv 19
rs1064796765 0.763 0.240 14 102002950 missense variant G/A snv 19
rs1441937959 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 19
rs139632595 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs1555377415 0.827 0.200 14 77027274 stop gained G/C snv 18