Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs833061 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs3212227 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 65
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs4938723 0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs920778 0.633 0.480 12 53966448 intron variant G/A snv 0.57 36