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: rs1801270
rs1801270
15 0.699 0.321 6 36684194 missense variant C/A,T snp 0.15; 4.4E-05 0.14 0.010 1.000 1 1995 1995
dbSNP: rs200172527
rs200172527
1 1.000 0.107 6 54124511 missense variant C/A snp 4.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs28942108
rs28942108
5 0.821 0.250 18 23538651 missense variant G/A snp 1.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs1799782
rs1799782
84 0.523 0.607 19 43553422 stop gained G/A snp 9.5E-02 7.1E-02 0.020 1.000 2 2006 2007
dbSNP: rs2285053
rs2285053
4 0.878 0.214 16 55478465 intron variant C/T snp 0.12 0.010 1.000 1 2007 2007
dbSNP: rs243865
rs243865
12 0.734 0.286 16 55477894 intron variant C/T snp 0.19 0.010 1.000 1 2007 2007
dbSNP: rs2228000
rs2228000
XPC
23 0.657 0.357 3 14158387 missense variant G/A snp 0.24 0.22 0.010 1.000 1 2008 2008
dbSNP: rs2228001
rs2228001
XPC
29 0.634 0.357 3 14145949 missense variant G/T snp 0.63 0.66 0.010 1.000 1 2008 2008
dbSNP: rs561841803
rs561841803
XPC
3 0.878 0.250 3 14158384 missense variant G/A snp 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs3129055
rs3129055
2 1.000 0.107 6 29702484 regulatory region variant A/G snp 0.24 0.010 1.000 1 2009 2009
dbSNP: rs4072111
rs4072111
7 0.784 0.250 15 81285798 missense variant C/T snp 0.17 0.11 0.010 1.000 1 2009 2009
dbSNP: rs9258122
rs9258122
1 1.000 0.107 6 29703963 intergenic variant snp 0.010 1.000 1 2009 2009
dbSNP: rs1536826
rs1536826
1 1.000 0.107 10 133543735 intron variant A/C snp 0.63 0.010 1.000 1 2010 2010
dbSNP: rs3827688
rs3827688
1 1.000 0.107 10 133555754 non coding transcript exon variant C/T snp 0.13 9.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs8192780
rs8192780
1 1.000 0.107 10 133540621 intron variant T/G snp 0.65 0.010 1.000 1 2010 2010
dbSNP: rs915908
rs915908
1 1.000 0.107 10 133533455 intron variant G/A snp 0.11 0.010 1.000 1 2010 2010
dbSNP: rs9418990
rs9418990
1 1.000 0.107 10 133524462 intron variant C/T snp 0.65 0.010 1.000 1 2010 2010
dbSNP: rs80358259
rs80358259
9 0.801 0.286 18 23536736 missense variant A/G snp 2.0E-04 6.4E-05 0.020 1.000 2 2004 2011
dbSNP: rs11158728
rs11158728
1 1.000 0.107 14 68295488 intron variant G/A,C,T snp 1.2E-03; 0.53 0.010 1.000 1 2011 2011
dbSNP: rs1805794
rs1805794
NBN
24 0.652 0.429 8 89978251 missense variant C/G snp 0.35 0.31 0.010 1.000 1 2011 2011
dbSNP: rs2735383
rs2735383
NBN
8 0.769 0.286 8 89935041 3 prime UTR variant C/G snp 0.32 0.010 < 0.001 1 2011 2011
dbSNP: rs3783553
rs3783553
7 0.784 0.250 2 112774138 3 prime UTR variant T/TTGAA in-del 9.6E-04; 0.68 0.010 1.000 1 2011 2011
dbSNP: rs927220
rs927220
1 1.000 0.107 14 68301255 intron variant G/T snp 0.69 0.010 1.000 1 2011 2011
dbSNP: rs4986790
rs4986790
146 0.465 0.750 9 117713024 missense variant A/G,T snp 6.1E-02; 4.0E-06 6.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs4986791
rs4986791
108 0.501 0.714 9 117713324 missense variant C/T snp 5.7E-02 5.1E-02 0.010 1.000 1 2012 2012