Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28934578 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs121913105 0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs995922697 0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06 15
rs387907272 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs3135932 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 23
rs121918459 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs2230926 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 27
rs1346044
WRN
0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 23
rs9268853 0.790 0.440 6 32461866 intron variant T/C snv 0.29 10
rs1800890 0.658 0.400 1 206776020 intron variant A/T snv 0.32 29
rs879253942 0.677 0.400 17 7673826 missense variant A/G snv 28
rs121913485 0.716 0.400 4 1804372 missense variant A/G snv 18
rs3099844 0.732 0.400 6 31481199 non coding transcript exon variant C/A snv 0.11 13
rs555607708 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs11547328 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 27
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 19
rs2395185 0.724 0.360 6 32465390 intron variant G/T snv 0.29 17
rs121434629 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 13
rs61756766 0.776 0.320 22 41925447 missense variant G/A snv 5.7E-03 5.7E-03 9
rs563378859 0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05 8
rs267608150 0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 7
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs2071286 0.752 0.280 6 32212119 intron variant C/T snv 0.17 12