Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1190999960 0.807 0.240 11 65571690 missense variant G/A snv 9
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs3747093 0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32 16
rs5751129 0.752 0.320 22 41619761 intron variant C/T snv 0.69 14
rs1799794 0.763 0.320 14 103712930 splice region variant T/C snv 0.22 12
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
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
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs767551092
XPC
0.790 0.200 3 14164838 missense variant G/A snv 4.0E-06 10
rs2808668
XPA
0.851 0.120 9 97690153 intron variant C/G;T snv 7
rs1346044
WRN
0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 23
rs2287499 0.925 0.080 17 7688850 missense variant C/G;T snv 0.20 4
rs1222213359 0.574 0.720 6 43770966 missense variant G/A snv 62
rs1570360 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 38
rs2010963 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs3025039 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs386675647 0.790 0.240 4 69098619 missense variant AT/TC mnv 10
rs7439366 0.752 0.320 4 69098620 missense variant T/C snv 0.56 0.57 16
rs3838646 0.827 0.320 Y 18991182 intron variant CA/- del 8
rs52812045 0.851 0.240 Y 18992540 non coding transcript exon variant G/A snv 7
rs2602141 0.790 0.120 15 43432448 missense variant T/G snv 0.36 0.47 9
rs560191 0.763 0.280 15 43475576 missense variant G/C;T snv 0.36; 4.0E-06 12