Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1800796
rs1800796
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs1979277
rs1979277
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.010 < 0.001 1 2014 2014
dbSNP: rs2014300
rs2014300
5 0.851 0.080 21 34985564 intron variant A/G;T snv 0.75 0.010 < 0.001 1 2013 2013
dbSNP: rs20575
rs20575
29 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 0.010 1.000 1 2015 2015
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 < 0.001 1 2014 2014
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 < 0.001 1 2014 2014
dbSNP: rs2230229
rs2230229
8 0.807 0.120 8 23191779 missense variant C/T snv 0.88 0.86 0.010 1.000 1 2015 2015
dbSNP: rs2233406
rs2233406
12 0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26 0.010 < 0.001 1 2019 2019
dbSNP: rs2240308
rs2240308
18 0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39 0.010 1.000 1 2006 2006
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs2285947
rs2285947
7 0.807 0.120 7 21544470 intron variant G/A snv 0.44 0.010 < 0.001 1 2015 2015
dbSNP: rs2292832
rs2292832
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 < 0.001 1 2015 2015
dbSNP: rs2308321
rs2308321
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 1.000 1 2005 2005
dbSNP: rs2424913
rs2424913
18 0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53 0.010 1.000 1 2014 2014
dbSNP: rs2494938
rs2494938
11 0.752 0.240 6 40568389 intron variant G/A snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2019 2019
dbSNP: rs3213173
rs3213173
8 0.776 0.120 20 33677440 missense variant C/T snv 1.2E-03 5.1E-03 0.010 1.000 1 2018 2018
dbSNP: rs3213176
rs3213176
8 0.776 0.120 20 33676869 missense variant C/T snv 1.9E-02; 5.1E-06 1.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs3218373
rs3218373
5 0.827 0.120 7 152677078 upstream gene variant C/A snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs3218536
rs3218536
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs351855
rs351855
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.010 1.000 1 2012 2012