Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs17021918 0.776 0.240 4 94641726 intron variant C/T snv 0.30 8
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs1805377 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 19
rs28360317 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 15
rs28360071 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 18
rs6869366 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 18
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs2239680 0.827 0.120 17 78223702 3 prime UTR variant T/C snv 0.27 0.24 5
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
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs4646903 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 36
rs7813 0.689 0.360 17 744946 missense variant G/A;C snv 0.63 22
rs4073 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs4588
GC
0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 53
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs1258159645 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 37
rs7931342 0.689 0.360 11 69227030 intergenic variant T/G snv 0.58 20
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79