Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1057520005 0.742 0.360 17 7673800 missense variant C/A;G snv 14
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs121913396 0.732 0.200 3 41224607 missense variant A/C;G;T snv 13
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs12338 0.807 0.200 8 11853379 missense variant G/A;C;T snv 8.0E-06; 0.38; 2.4E-05 10
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs16917496 0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv 21
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1800470 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs1870134
XPC ; LSM3
0.827 0.120 3 14178523 missense variant G/C;T snv 4.2E-02; 8.1E-06 5
rs187238 0.602 0.680 11 112164265 intron variant C/A;G snv 48
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs2066827 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 21
rs2077647 0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46 16
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs2298881 0.653 0.400 19 45423658 intron variant C/A;T snv 25
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78