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: rs118203347
rs118203347
1 9 132927208 missense variant T/C snp 0.700 1 2008 2008
dbSNP: rs118203385
rs118203385
1 9 132923383 missense variant A/C,G snp 0.700 1 2008 2008
dbSNP: rs2228000
rs2228000
XPC
23 0.657 0.357 3 14158387 missense variant G/A snp 0.24 0.22 0.060 1.000 6 2007 2014
dbSNP: rs2228001
rs2228001
XPC
29 0.634 0.357 3 14145949 missense variant G/T snp 0.63 0.66 0.060 1.000 6 2005 2014
dbSNP: rs2294008
rs2294008
15 0.724 0.179 8 142680513 5 prime UTR variant C/T snp 0.46 0.45 0.060 1.000 6 2009 2016
dbSNP: rs25487
rs25487
119 0.485 0.679 19 43551574 missense variant T/C snp 0.68 0.72 0.060 0.833 6 2004 2014
dbSNP: rs861539
rs861539
60 0.561 0.464 14 103699416 missense variant G/A snp 0.29 0.29 0.050 1.000 5 2004 2014
dbSNP: rs1052133
rs1052133
77 0.533 0.643 3 9757089 missense variant C/G snp 0.27 0.22 0.040 1.000 4 2007 2013
dbSNP: rs13181
rs13181
82 0.525 0.536 19 45351661 stop gained T/A,G snp 4.0E-06; 0.32 0.32 0.040 1.000 4 2011 2014
dbSNP: rs1799793
rs1799793
51 0.585 0.500 19 45364001 missense variant C/A,T snp 7.1E-06; 0.29 0.27 0.040 1.000 4 2008 2014
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 0.040 1.000 4 2010 2014
dbSNP: rs798766
rs798766
4 0.923 0.107 4 1732512 intron variant T/C snp 0.77 0.040 1.000 4 2013 2015
dbSNP: rs1695
rs1695
100 0.510 0.679 11 67585218 missense variant A/G snp 0.34 0.35 0.030 1.000 3 2002 2013
dbSNP: rs1799782
rs1799782
84 0.523 0.607 19 43553422 stop gained G/A snp 9.5E-02 7.1E-02 0.030 1.000 3 2013 2014
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.030 1.000 3 2005 2013
dbSNP: rs710521
rs710521
4 0.923 0.107 3 189928144 intergenic variant T/C snp 0.23 0.030 0.667 3 2009 2015
dbSNP: rs9642880
rs9642880
4 0.923 0.107 8 127705823 intron variant G/A,T snp 6.4E-05; 0.55 0.030 1.000 3 2009 2014
dbSNP: rs1042028
rs1042028
20 0.685 0.321 16 28606193 missense variant C/T snp 0.22 0.31 0.020 1.000 2 2004 2014
dbSNP: rs11892031
rs11892031
4 0.923 0.107 2 233656637 intron variant A/C,T snp 0.10; 1.0E-03 0.020 1.000 2 2010 2015
dbSNP: rs17655
rs17655
39 0.611 0.500 13 102875652 missense variant G/C snp 0.28 0.30 0.020 1.000 2 2011 2014
dbSNP: rs17674580
rs17674580
3 0.923 0.107 18 45729946 5 prime UTR variant C/A,T snp 0.26 0.020 1.000 2 2014 2015
dbSNP: rs1800566
rs1800566
41 0.605 0.571 16 69711242 missense variant G/A snp 0.25 0.21 0.020 1.000 2 2014 2015
dbSNP: rs1805087
rs1805087
MTR
75 0.538 0.679 1 236885200 missense variant A/G snp 0.20 0.21 0.020 1.000 2 2004 2009
dbSNP: rs1805794
rs1805794
NBN
24 0.652 0.429 8 89978251 missense variant C/G snp 0.35 0.31 0.020 1.000 2 2012 2015
dbSNP: rs2736098
rs2736098
22 0.679 0.286 5 1293971 synonymous variant C/T snp 0.29 0.22 0.020 1.000 2 2014 2015