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
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs144848 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 29
rs4977756 0.683 0.440 9 22068653 intron variant G/A snv 0.64 24
rs1063192 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 24
rs121918457 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 24
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs879255280
SMO
0.701 0.200 7 129206557 missense variant C/T snv 22
rs2157719 0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 17
rs3734254 0.752 0.240 6 35427233 3 prime UTR variant C/T snv 0.69 14
rs80358638 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 9
rs63750451 0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 7
rs143277125 0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 6
rs13306747 0.807 0.200 3 12416775 synonymous variant C/A;G;T snv 8.0E-06; 4.2E-03; 7.2E-05 6
rs922324159 0.827 0.040 2 15941962 5 prime UTR variant G/A snv 2.4E-04 5
rs1400239417
ALK
0.882 0.040 2 29220756 missense variant T/A;G snv 4.0E-06 2.1E-05 4
rs755103500 0.851 0.160 9 95516820 start lost T/C;G snv 8.4E-06; 4.2E-06 4
rs766905791 0.851 0.160 9 95485815 start lost T/C snv 1.2E-05 4
rs765602971
NBN
0.882 0.040 8 89970503 missense variant T/C snv 4.0E-06 3
rs6008197 0.882 0.040 22 46224519 intron variant G/C snv 0.27 3