Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1456079929
PGR
0.851 0.120 11 101042001 missense variant C/A snv 8.0E-06 5
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs17401966 0.790 0.280 1 10325413 intron variant A/G snv 0.24 7
rs1002076 0.925 0.120 1 10378834 3 prime UTR variant G/A snv 0.33 2
rs314276 0.807 0.280 6 104960124 intron variant A/C snv 0.65 10
rs768623239 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 26
rs1834481 0.882 0.160 11 112153104 non coding transcript exon variant C/G snv 0.16 5
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs10260419 0.882 0.120 7 11524758 intron variant C/G snv 0.26 3
rs17329882 0.925 0.120 4 119028805 intron variant A/C;T snv 2
rs4758680 0.763 0.320 12 122170805 intron variant T/A;G snv 9
rs7977932 0.763 0.320 12 122172836 intron variant C/G;T snv 10
rs16917496 0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv 21
rs10069690 0.595 0.560 5 1279675 intron variant C/T snv 0.36 53
rs1057156 0.925 0.120 3 128081228 3 prime UTR variant A/G snv 0.22 0.23 2
rs149652370 0.925 0.120 3 128084115 non coding transcript exon variant A/G snv 1.3E-04 2
rs10088218 0.851 0.120 8 128531703 intron variant G/A snv 0.13 4
rs633862 0.925 0.120 9 133279871 upstream gene variant T/C snv 0.49 5
rs17250239 0.925 0.120 9 136902178 non coding transcript exon variant G/A snv 7.2E-02 2
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs237028 0.925 0.120 6 149397514 intron variant C/T snv 0.58 2
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs7053448
F8
0.925 0.120 X 154964936 intron variant T/C snv 0.15 2