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: rs13178127
rs13178127
1 1.000 0.120 5 83293613 intron variant A/G snv 3.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.040 1.000 4 2007 2016
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2009 2016
dbSNP: rs25489
rs25489
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.020 0.500 2 2009 2016
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.020 1.000 2 2006 2014
dbSNP: rs1801195
rs1801195
WRN
8 0.776 0.240 8 31141764 missense variant G/A;T snv 8.0E-06; 0.45 0.46 0.010 1.000 1 2013 2013
dbSNP: rs4516035
rs4516035
VDR
10 0.776 0.360 12 47906043 non coding transcript exon variant T/C snv 0.31 0.010 1.000 1 2012 2012
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2011 2011
dbSNP: rs1041163
rs1041163
3 0.882 0.160 1 100718269 upstream gene variant T/C snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs1448674651
rs1448674651
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1353759920
rs1353759920
4 0.851 0.120 1 3707593 missense variant C/A snv 2.1E-05 0.010 1.000 1 2004 2004
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.050 0.800 5 2004 2017
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.050 0.800 5 2004 2017
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.050 0.800 5 2004 2017
dbSNP: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs886039484
rs886039484
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs1053667
rs1053667
4 0.925 0.120 14 45073835 3 prime UTR variant T/C snv 0.11 0.020 1.000 2 2014 2014
dbSNP: rs2582869
rs2582869
1 1.000 0.120 13 108259797 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1045241
rs1045241
6 1.000 0.120 5 119393591 3 prime UTR variant C/T snv 0.30 0.020 1.000 2 2012 2013
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.060 1.000 6 2007 2015
dbSNP: rs745738344
rs745738344
TNF
28 0.653 0.600 6 31576786 synonymous variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs4901706
rs4901706
3 1.000 0.120 14 56647667 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11943456
rs11943456
18 0.708 0.320 4 55410167 intron variant T/C snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs5743836
rs5743836
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 1.000 1 2012 2012