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: rs2228611
rs2228611
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs16999593
rs16999593
14 0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 0.010 1.000 1 2014 2014
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2016 2016
dbSNP: rs553509
rs553509
3 0.925 0.040 X 104013293 missense variant T/C snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs2232015
rs2232015
1 1.000 0.040 1 107056636 upstream gene variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3791185
rs3791185
1 1.000 0.040 1 107058247 3 prime UTR variant G/A snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs35576928
rs35576928
1 1.000 0.040 16 11281137 missense variant C/A;G snv 8.7E-03; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2274911
rs2274911
6 0.851 0.160 6 116809541 missense variant G/A snv 0.72 0.74 0.010 1.000 1 2016 2016
dbSNP: rs55763075
rs55763075
6 0.827 0.120 1 11790377 3 prime UTR variant C/T snv 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 0.667 3 2011 2013
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2007 2015
dbSNP: rs886039769
rs886039769
10 0.807 0.160 9 124500686 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs10269148
rs10269148
2 0.925 0.040 7 135230056 upstream gene variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2009 2009
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2013 2013
dbSNP: rs121918346
rs121918346
5 0.882 0.040 3 16598169 missense variant T/C;G snv 8.0E-06 0.020 0.500 2 2002 2005
dbSNP: rs200750564
rs200750564
6 0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs6080550
rs6080550
5 0.851 0.040 20 1778944 intron variant C/G;T snv 9.6E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs202007462
rs202007462
1 1.000 0.040 1 179342120 missense variant T/C snv 1.2E-05 7.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs3197744
rs3197744
1 1.000 0.040 20 1937841 3 prime UTR variant G/T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2014 2014
dbSNP: rs2973631
rs2973631
1 1.000 0.040 5 23528117 3 prime UTR variant C/T snv 0.10 0.010 1.000 1 2013 2013
dbSNP: rs11046992
rs11046992
1 1.000 0.040 12 23584632 intron variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2015 2015
dbSNP: rs10842262
rs10842262
5 0.851 0.040 12 24031610 intron variant G/C snv 0.43 0.010 < 0.001 1 2019 2019