Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs34612342 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 32
rs768623239 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 26
rs35431622 0.851 0.120 1 204190794 missense variant T/A;C snv 5.5E-05; 4.7E-02 4
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs1045485 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs4553808 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs4150403 0.925 0.040 2 127292492 3 prime UTR variant C/T snv 5.7E-02 2
rs554194414 0.925 0.040 2 8731250 missense variant T/C snv 2
rs770925903 0.925 0.040 2 8731740 missense variant C/A;T snv 1.6E-05; 4.0E-06 2
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs1629816 0.851 0.080 3 10294607 non coding transcript exon variant G/A;C snv 4
rs4855883 0.851 0.080 3 49673881 upstream gene variant G/A;C snv 4
rs6796803 0.925 0.040 3 186746318 intron variant T/A;C snv 4
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs698 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 20
rs35385902 0.807 0.240 4 99347122 missense variant C/A;T snv 2.0E-05; 1.1E-03 9
rs1573496 0.827 0.160 4 99428512 missense variant C/G snv 8.5E-02; 4.9E-04 7.8E-02 7