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: rs121434569
rs121434569
29 0.667 0.321 7 55181378 missense variant C/T snp 2.8E-05 9.6E-05 0.100 0.981 53 2006 2018
dbSNP: rs25487
rs25487
119 0.485 0.679 19 43551574 missense variant T/C snp 0.68 0.72 0.100 0.905 21 2003 2015
dbSNP: rs121434568
rs121434568
33 0.642 0.321 7 55191822 missense variant T/A,G snp 0.100 1.000 18 2005 2017
dbSNP: rs1052133
rs1052133
77 0.533 0.643 3 9757089 missense variant C/G snp 0.27 0.22 0.100 0.875 16 2000 2014
dbSNP: rs1048943
rs1048943
53 0.572 0.571 15 74720644 missense variant T/C snp 0.11 5.0E-02 0.100 1.000 14 1999 2014
dbSNP: rs1799782
rs1799782
84 0.523 0.607 19 43553422 stop gained G/A snp 9.5E-02 7.1E-02 0.100 0.857 14 2001 2015
dbSNP: rs13181
rs13181
82 0.525 0.536 19 45351661 stop gained T/A,G snp 4.0E-06; 0.32 0.32 0.100 1.000 12 2003 2015
dbSNP: rs16969968
rs16969968
20 0.699 0.214 15 78590583 missense variant G/A snp 0.26 0.24 0.100 0.917 12 2008 2016
dbSNP: rs861539
rs861539
60 0.561 0.464 14 103699416 missense variant G/A snp 0.29 0.29 0.100 0.917 12 2007 2015
dbSNP: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.100 0.909 11 2001 2015
dbSNP: rs1051730
rs1051730
19 0.715 0.250 15 78601997 synonymous variant G/A snp 0.27 0.26 0.100 1.000 10 2008 2013
dbSNP: rs1695
rs1695
100 0.510 0.679 11 67585218 missense variant A/G snp 0.34 0.35 0.100 0.600 10 1999 2013
dbSNP: rs2736100
rs2736100
52 0.596 0.571 5 1286401 intron variant C/A snp 0.53 0.090 1.000 9 2010 2015
dbSNP: rs1799793
rs1799793
51 0.585 0.500 19 45364001 missense variant C/A,T snp 7.1E-06; 0.29 0.27 0.080 1.000 8 2001 2012
dbSNP: rs1130409
rs1130409
45 0.590 0.500 14 20456995 missense variant T/A,C,G snp 4.0E-06; 4.0E-06; 0.42 0.44 0.060 1.000 6 2004 2014
dbSNP: rs121913529
rs121913529
70 0.559 0.393 12 25245350 missense variant C/A,G,T snp 4.0E-06 0.060 1.000 6 2010 2017
dbSNP: rs25489
rs25489
48 0.587 0.571 19 43552260 stop lost C/G,T snp 8.5E-06; 7.1E-02 3.2E-05; 5.5E-02 0.060 0.667 6 2001 2014
dbSNP: rs4880
rs4880
81 0.536 0.643 6 159692840 missense variant A/G snp 0.48 0.47 0.060 0.667 6 2007 2014
dbSNP: rs8034191
rs8034191
14 0.744 0.179 15 78513681 intron variant T/C snp 0.27 0.050 1.000 5 2008 2012
dbSNP: rs1056836
rs1056836
31 0.634 0.500 2 38071060 missense variant G/C snp 0.63 0.50 0.040 1.000 4 2006 2009
dbSNP: rs2228001
rs2228001
XPC
29 0.634 0.357 3 14145949 missense variant G/T snp 0.63 0.66 0.040 1.000 4 2005 2014
dbSNP: rs401681
rs401681
22 0.679 0.464 5 1321972 intron variant C/T snp 0.48 0.040 1.000 4 2013 2014
dbSNP: rs402710
rs402710
7 0.784 0.179 5 1320607 non coding transcript exon variant C/T snp 0.33 0.39 0.040 1.000 4 2009 2015
dbSNP: rs1042522
rs1042522
56 0.563 0.643 17 7676154 stop gained G/C,T snp 0.67 0.62 0.030 0.667 3 2006 2014
dbSNP: rs1050450
rs1050450
21 0.692 0.500 3 49357401 missense variant G/A snp 0.28 0.30 0.030 1.000 3 2007 2008