Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs758272654 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs187238 0.602 0.680 11 112164265 intron variant C/A;G snv 48
rs1946518 0.602 0.760 11 112164735 intron variant T/G snv 0.60 46
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs1979277 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 45
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs1138272 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 42
rs2274223 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 40
rs16969968 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 37
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs920778 0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs1045485 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs9344 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 34
rs397516436 0.641 0.440 17 7674894 stop gained G/A;C snv 34
rs34612342 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 32
rs4919510 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 32
rs2308321 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 29