Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752021744 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 29
rs1799977 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs876658657 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 25
rs1042636 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 23
rs352139 0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54 18
rs1418586322 0.827 0.160 3 37050495 missense variant C/G snv 4.0E-06 6
rs2270916 0.851 0.120 3 122282252 intron variant T/C snv 0.13 0.11 6
rs10222633 0.925 0.080 3 122258079 intron variant G/A snv 0.45 4
rs10934578 0.925 0.080 3 122258435 intron variant G/T snv 0.30 4
rs756363791 0.882 0.080 3 9756823 missense variant G/A snv 2.0E-05 4
rs352144 0.925 0.080 3 52227452 intron variant T/G snv 3.7E-02 3
rs63751701 0.925 0.080 3 36993663 stop gained G/A;T snv 3
rs760891242
XPC
0.925 0.080 3 14168309 missense variant G/C snv 4.0E-06 7.0E-06 3
rs9869263 0.925 0.080 3 190312891 synonymous variant A/C;G;T snv 8.0E-06; 0.83; 4.0E-06 3
rs11923427 0.925 0.080 3 12622336 intron variant C/G;T snv 2
rs12485716 0.925 0.080 3 122260843 intron variant G/A snv 0.36 2
rs12490683 0.925 0.080 3 75329934 non coding transcript exon variant G/A snv 0.46 2
rs12497343 0.925 0.080 3 75330074 intron variant C/G;T snv 2
rs17250717 0.925 0.080 3 122261339 intron variant G/T snv 7.4E-02 2
rs1802757 0.925 0.080 3 122286284 3 prime UTR variant C/T snv 0.17 2
rs3804592 0.925 0.080 3 122260382 intron variant G/A snv 0.18 2
rs4678174 0.925 0.080 3 122282024 intron variant C/T snv 0.56 2
rs779795819 0.925 0.080 3 37048526 frameshift variant -/ATTG delins 4.0E-06 2
rs876658198 0.925 0.080 3 37028855 missense variant G/A snv 2
rs3804099 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 40