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: rs121918346
rs121918346
4 0.846 0.036 3 16598169 missense variant T/C,G snp 8.0E-06 3.2E-05 0.020 0.500 2 2002 2005
dbSNP: rs2075789
rs2075789
3 0.878 0.036 6 31740551 stop gained C/T snp 0.13 9.1E-02 0.020 1.000 2 2010 2012
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.020 0.500 2 2012 2014
dbSNP: rs10269148
rs10269148
2 0.923 0.036 7 135230056 intergenic variant C/A,G snp 0.19 0.010 1.000 1 2013 2013
dbSNP: rs104893837
rs104893837
7 0.784 0.143 4 67740682 missense variant C/T snp 1.8E-03 1.8E-03 0.010 1.000 1 2007 2007
dbSNP: rs1059060
rs1059060
3 0.878 0.036 7 5977709 missense variant snp 0.010 1.000 1 2012 2012
dbSNP: rs10835638
rs10835638
2 0.923 0.071 11 30230805 intergenic variant G/A,T snp 3.2E-05; 0.11 0.010 1.000 1 2013 2013
dbSNP: rs11046992
rs11046992
1 1.000 0.036 12 23584632 intron variant G/A,C,T snp 0.23 0.010 1.000 1 2014 2014
dbSNP: rs11703684
rs11703684
1 1.000 0.036 22 24748945 missense variant C/G,T snp 0.23 0.19 0.010 1.000 1 2011 2011
dbSNP: rs140756663
rs140756663
2 0.923 0.036 6 116278733 missense variant G/T snp 3.6E-03 1.8E-03 0.010 1.000 1 2012 2012
dbSNP: rs144944885
rs144944885
2 0.923 0.036 22 50776482 intron variant TG/T in-del 3.9E-05 0.010 1.000 1 2018 2018
dbSNP: rs16999593
rs16999593
6 0.801 0.214 19 10180505 missense variant T/C snp 2.4E-02 1.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs17420802
rs17420802
2 0.923 0.036 7 5977709 missense variant T/A,C snp 2.5E-04 0.010 1.000 1 2012 2012
dbSNP: rs175080
rs175080
4 0.846 0.107 14 75047125 missense variant G/A snp 0.40 0.42 0.010 1.000 1 2010 2010
dbSNP: rs2228000
rs2228000
XPC
23 0.657 0.357 3 14158387 missense variant G/A snp 0.24 0.22 0.010 < 0.001 1 2009 2009
dbSNP: rs2228611
rs2228611
5 0.878 0.071 19 10156401 synonymous variant T/A,C snp 0.52 3.2E-05; 0.51 0.010 1.000 1 2015 2015
dbSNP: rs2232015
rs2232015
1 1.000 0.036 1 107056636 regulatory region variant A/G,T snp 0.25 0.010 1.000 1 2014 2014
dbSNP: rs2274911
rs2274911
4 0.846 0.143 6 116809541 missense variant G/A snp 0.72 0.72 0.010 1.000 1 2016 2016
dbSNP: rs3197744
rs3197744
1 1.000 0.036 20 1937841 3 prime UTR variant G/T snp 0.52 0.010 1.000 1 2014 2014
dbSNP: rs35576928
rs35576928
1 1.000 0.036 16 11281137 missense variant snp 8.7E-03; 4.0E-06 1.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs370116569
rs370116569
2 0.923 0.036 6 116279412 missense variant G/C snp 3.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs3791185
rs3791185
1 1.000 0.036 1 107058247 3 prime UTR variant G/A snp 0.16 0.010 1.000 1 2014 2014
dbSNP: rs4647269
rs4647269
2 0.923 0.036 3 37016100 intron variant C/T snp 0.34 0.010 1.000 1 2012 2012
dbSNP: rs508485
rs508485
1 1.000 0.036 11 94621313 3 prime UTR variant C/T snp 0.50 0.010 1.000 1 2011 2011
dbSNP: rs587781908
rs587781908
2 0.923 0.036 7 6005973 missense variant A/G snp 1.2E-05 0.010 1.000 1 2012 2012