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: rs12917
rs12917
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2012 2012
dbSNP: rs1312391542
rs1312391542
2 0.925 0.120 6 106104897 missense variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2013 2013
dbSNP: rs1390458638
rs1390458638
2 0.925 0.120 2 219216441 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs17851045
rs17851045
27 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs1800797
rs1800797
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2018 2018
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: rs1880030
rs1880030
2 0.925 0.120 12 122046634 intron variant G/A snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs20551
rs20551
10 0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23 0.010 1.000 1 2017 2017
dbSNP: rs2070770
rs2070770
2 0.925 0.120 11 60463058 synonymous variant C/T snv 7.1E-02 5.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2008 2008
dbSNP: rs2234922
rs2234922
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs2736098
rs2736098
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2018 2018
dbSNP: rs28933406
rs28933406
27 0.667 0.480 11 533875 missense variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2014 2014
dbSNP: rs3758391
rs3758391
11 0.742 0.480 10 67883584 upstream gene variant T/C snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs6449182
rs6449182
6 0.807 0.160 4 15778830 intron variant C/G snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs770027749
rs770027749
2 0.925 0.120 22 28795623 missense variant C/A;G snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs895819
rs895819
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.010 1.000 1 2020 2020