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: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.040 1.000 4 2006 2014
dbSNP: rs12203592
rs12203592
22 0.699 0.250 6 396321 intron variant C/T snp 9.0E-02 0.020 1.000 2 2011 2014
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 2004 2007
dbSNP: rs25487
rs25487
119 0.485 0.679 19 43551574 missense variant T/C snp 0.68 0.72 0.020 1.000 2 2004 2007
dbSNP: rs34637584
rs34637584
47 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.020 0.500 2 2012 2014
dbSNP: rs104894094
rs104894094
7 0.801 0.179 9 21971058 missense variant C/A,G,T snp 8.5E-06; 4.3E-06 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs1126809
rs1126809
14 0.724 0.321 11 89284793 missense variant G/A snp 0.18 0.18 0.010 1.000 1 2012 2012
dbSNP: rs1133400
rs1133400
2 1.000 0.071 10 132645884 missense variant A/G snp 0.22 0.17 0.010 1.000 1 2016 2016
dbSNP: rs13181
rs13181
82 0.525 0.536 19 45351661 stop gained T/A,G snp 4.0E-06; 0.32 0.32 0.010 1.000 1 2005 2005
dbSNP: rs1650697
rs1650697
2 0.923 0.107 5 80654962 missense variant A/G,T snp 0.86 0.79 0.010 1.000 1 2016 2016
dbSNP: rs1799793
rs1799793
51 0.585 0.500 19 45364001 missense variant C/A,T snp 7.1E-06; 0.29 0.27 0.010 1.000 1 2005 2005
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 2016 2016
dbSNP: rs2273535
rs2273535
22 0.679 0.250 20 56386485 missense variant A/C,T snp 0.28 0.23 0.010 1.000 1 2009 2009
dbSNP: rs2278952
rs2278952
1 1.000 0.071 17 17582270 5 prime UTR variant G/A snp 5.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs3024496
rs3024496
5 0.821 0.179 1 206768519 3 prime UTR variant A/G snp 0.42 0.010 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.010 1.000 1 2007 2007
dbSNP: rs401681
rs401681
22 0.679 0.464 5 1321972 intron variant C/T snp 0.48 0.010 1.000 1 2011 2011
dbSNP: rs41556519
rs41556519
5 0.846 0.143 19 45352352 missense variant G/A snp 6.0E-05 6.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs4880
rs4880
81 0.536 0.643 6 159692840 missense variant A/G snp 0.48 0.47 0.010 1.000 1 2007 2007
dbSNP: rs529365517
rs529365517
3 0.923 0.071 1 212858540 missense variant C/T snp 0.010 1.000 1 2017 2017
dbSNP: rs749140677
rs749140677
VDR
8 0.784 0.143 12 47857185 missense variant G/A snp 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs872071
rs872071
7 0.821 0.214 6 411064 3 prime UTR variant A/G,T snp 0.37; 3.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs897453
rs897453
1 1.000 0.071 17 17522317 missense variant C/A,G,T snp 8.0E-06; 0.34 0.33 0.010 1.000 1 2016 2016