Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs1057520009 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 14
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
rs11536889 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 27
rs7656411 0.790 0.320 4 153706503 downstream gene variant T/G snv 0.35 8
rs5743551 0.742 0.240 4 38806033 intron variant T/A;C snv 12
rs757333753 0.851 0.200 3 12618681 missense variant C/A;T snv 4.0E-06 6
rs121918464 0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs121918453 0.732 0.280 12 112450394 missense variant G/A;C;T snv 19
rs121918454 0.742 0.280 12 112450395 missense variant C/A;G;T snv 17
rs397507514 0.790 0.240 12 112450408 missense variant G/C;T snv 10
rs1239105602 1.000 0.160 10 87864168 5 prime UTR variant C/T snv 2
rs917927904 1.000 0.160 10 87864242 5 prime UTR variant G/T snv 7.0E-06 2
rs562015640 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
rs779530981 1.000 0.160 10 87933035 missense variant C/A snv 4
rs1114167651 1.000 0.160 10 87933107 missense variant C/A;T snv 4.0E-06 2
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 26
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs387907272 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306