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 47
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
rs73046248 1.000 0.080 3 21718112 intron variant T/C snv 3.3E-02 1
rs77911174 0.925 0.080 10 79067076 intron variant A/G snv 5.4E-02 2
rs6062509 0.925 0.080 20 63731211 intron variant G/T snv 0.76 2
rs7064929 0.925 0.120 X 65147139 intergenic variant G/A snv 0.25 2
rs6763931 0.925 0.080 3 141383991 intron variant G/A snv 0.54 4
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs6869366 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 18
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
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
rs1870134
XPC ; LSM3
0.827 0.120 3 14178523 missense variant G/C;T snv 4.2E-02; 8.1E-06 5
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2807031 1.000 0.080 X 52867918 intron variant T/C snv 0.18 1