Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4957014 0.752 0.160 5 287899 intron variant T/G snv 0.74 11
rs710886 0.763 0.160 8 127014615 intron variant C/T snv 0.37 9
rs2293607 0.807 0.200 3 169764547 non coding transcript exon variant T/A;C snv 6
rs28360071 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 18
rs1130214 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 12
rs12529 0.776 0.280 10 5094459 missense variant C/G snv 0.50 0.45 10
rs6869366 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 18
rs776223836 0.763 0.280 19 45364045 missense variant G/A snv 11
rs1799794 0.763 0.320 14 103712930 splice region variant T/C snv 0.22 12
rs402710 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 18
rs1805329 0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16 15
rs4143815 0.689 0.400 9 5468257 3 prime UTR variant G/C snv 0.23 20
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs1805377 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 19
rs217727 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2839698 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 25
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63