Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1154454 0.925 0.120 4 99417185 intron variant A/G snv 0.22 2
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs104893751 0.882 0.240 3 9750423 missense variant G/A;C snv 2.2E-03; 4.0E-06 5
rs147608663 1.000 0.120 5 97171338 missense variant A/G snv 2.8E-05; 8.1E-06 4.9E-05 1
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs7102764 0.925 0.120 11 88778092 intron variant A/T snv 0.50 2
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs2279776 1.000 0.120 9 8389364 synonymous variant C/G;T snv 0.50; 4.0E-06 1
rs11556218 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 27
rs4778889 0.683 0.480 15 81296654 intron variant T/C snv 0.24 24
rs1417080 0.925 0.120 9 79515946 non coding transcript exon variant T/C snv 0.35 2
rs7859384 0.882 0.120 9 79507370 intron variant A/C;G snv 6
rs9332 0.925 0.200 5 7900599 3 prime UTR variant G/A snv 0.21 2
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
rs886039484 0.641 0.440 17 7674888 missense variant T/C;G snv 32
rs1057520001 0.677 0.360 17 7674886 missense variant A/C;G snv 23
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs8081059 0.925 0.120 17 73072580 intron variant C/A snv 0.83 2
rs4903064 0.925 0.120 14 72812712 intron variant T/C snv 0.23 2
rs149617956 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 32
rs1449964136 0.925 0.120 3 69936725 start lost G/A snv 8.0E-06 7.0E-06 2
rs7105934 0.827 0.120 11 69424973 upstream gene variant G/A;C snv 5
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79