Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs964184 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 14
rs1290923018 0.851 0.160 11 65570699 missense variant G/A snv 4.0E-06 5
rs116890317 0.925 0.080 17 49321080 intron variant T/A snv 8.1E-03 2
rs79670217 0.925 0.080 17 49337732 intron variant T/G snv 3.7E-02 2
rs77911174 0.925 0.080 10 79067076 intron variant A/G snv 5.4E-02 2
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs1805377 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 19
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
rs28360317 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 15
rs1799796 0.790 0.240 14 103699590 intron variant T/A;C snv 0.31 7
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs25490 0.851 0.120 19 43552189 missense variant T/C snv 7.2E-03 2.6E-02 4
rs1041258260 0.925 0.080 19 43552170 missense variant C/T snv 8.0E-06 1.4E-05 2
rs777272152 0.925 0.080 19 43552176 missense variant C/T snv 1.2E-05 7.0E-06 2
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs1870134
XPC ; LSM3
0.827 0.120 3 14178523 missense variant G/C;T snv 4.2E-02; 8.1E-06 5
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs619824 0.925 0.080 10 102821531 intron variant A/C snv 0.50 2
rs2359612 0.851 0.120 16 31092475 intron variant A/G snv 0.66 7
rs779805
VHL
0.851 0.120 3 10141653 5 prime UTR variant G/A;C snv 4
rs2010963 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 81