Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs9288516 0.827 0.120 2 216188541 intron variant T/A snv 5.0E-02 6
rs1805377 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 19
rs1214285376 0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06 8
rs148611340 0.790 0.120 19 43543621 missense variant G/A;C snv 4.0E-06; 1.2E-05 7
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs199613843 0.807 0.160 19 43551609 synonymous variant C/T snv 4.0E-06 7.0E-06 6
rs2307191 0.827 0.120 19 43553616 missense variant G/A snv 1.2E-03 4.8E-03 5
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs25490 0.851 0.120 19 43552189 missense variant T/C snv 7.2E-03 2.6E-02 4
rs72554204 0.827 0.120 19 43546062 missense variant C/T snv 1.2E-04 1.3E-04 5
rs3025039 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs833061 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
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 213
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs5743708 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 97
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 46
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 73
rs6489769 0.851 0.120 12 963799 intron variant C/A;T snv 4
rs7963551 0.807 0.160 12 912349 3 prime UTR variant T/G snv 0.13 7
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 153
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41