Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs11540652 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs121912651 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 53
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs121913343 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 44
rs121913281 0.623 0.520 3 179234296 missense variant C/T snv 37
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 26
rs121913400 0.683 0.360 3 41224610 missense variant C/A;G;T snv 26
rs138729528 0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05 25
rs1063192 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 24
rs121912657 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 24
rs121913286 0.677 0.280 3 179218306 missense variant C/A;G snv 23
rs121913403 0.683 0.240 3 41224622 missense variant C/A;G;T snv 23
rs587782329 0.677 0.280 17 7674217 missense variant C/A;G;T snv 23
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs1057519932 0.683 0.320 3 179234298 missense variant T/G snv 22
rs879255280
SMO
0.701 0.200 7 129206557 missense variant C/T snv 22
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 19