Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs376040996
XPA
0.790 0.120 9 97687210 missense variant T/C;G snv 1.2E-05; 2.0E-05 7
rs1408543226
XPA
0.807 0.240 9 97675558 missense variant A/G snv 7.0E-06 6
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs746702110 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 38
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs2274223 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 40
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs28360071 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 18
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs3743073 0.807 0.120 15 78617197 intron variant G/T snv 0.61 11
rs667282 0.790 0.120 15 78571130 intron variant T/C snv 0.28 13
rs13042395 0.752 0.160 20 773867 intron variant C/T snv 5.9E-02 13
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
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
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
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs937283 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 19