Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12521436 0.827 0.120 5 143438042 upstream gene variant G/A snv 0.21 5
rs144779807 0.827 0.120 5 1268529 missense variant C/A;T snv 4.0E-06; 4.0E-05 7
rs148611340 0.790 0.120 19 43543621 missense variant G/A;C snv 4.0E-06; 1.2E-05 7
rs17728461 0.776 0.120 22 30202563 intron variant C/G snv 0.25 9
rs3743073 0.807 0.120 15 78617197 intron variant G/T snv 0.61 11
rs376040996
XPA
0.790 0.120 9 97687210 missense variant T/C;G snv 1.2E-05; 2.0E-05 7
rs4912913 0.827 0.120 5 143438741 upstream gene variant T/C snv 0.48 5
rs551060742 0.827 0.120 2 47482929 stop gained C/T snv 8.4E-05 1.0E-04 7
rs667282 0.790 0.120 15 78571130 intron variant T/C snv 0.28 13
rs748491031 0.827 0.120 7 55200384 stop gained C/G;T snv 1.2E-05 8
rs753955 0.776 0.120 13 23719720 regulatory region variant A/G snv 0.50 9
rs830083 0.807 0.120 11 47232500 intron variant G/A;C;T snv 6
rs10680577 0.776 0.160 19 40798690 intron variant -/TACT delins 10
rs13042395 0.752 0.160 20 773867 intron variant C/T snv 5.9E-02 13
rs1859168 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 13
rs2072454 0.763 0.160 7 55146655 synonymous variant C/T snv 0.51 0.51 9
rs2240688 0.790 0.160 4 15968726 3 prime UTR variant T/G snv 0.22 7
rs11896604 0.776 0.200 2 54252062 intron variant C/A;G;T snv 8
rs3747093 0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32 16
rs465498 0.776 0.200 5 1325688 non coding transcript exon variant A/G snv 0.46 9
rs629367 0.776 0.200 11 122146306 intron variant C/A snv 0.88 11
rs937283 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 19
rs1047972 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 19
rs10511729 0.742 0.240 9 23557229 intron variant T/G snv 0.35 11
rs10811474 0.742 0.240 9 21114238 intergenic variant A/G snv 0.44 11