Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1805377 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 19
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs2010963 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
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
rs2293607 0.807 0.200 3 169764547 non coding transcript exon variant T/A;C snv 6
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs2839698 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 25
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs3025039 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs3212227 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 65
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs3746444 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs402710 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 18
rs4143815 0.689 0.400 9 5468257 3 prime UTR variant G/C snv 0.23 20
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs4957014 0.752 0.160 5 287899 intron variant T/G snv 0.74 11
rs6869366 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 18
rs710886 0.763 0.160 8 127014615 intron variant C/T snv 0.37 9