Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 230
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs4938723 0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 92
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 153
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
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
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
rs5743708 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 97
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
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
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