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: rs10190751
rs10190751
4 0.882 0.120 2 201141373 splice acceptor variant G/A snv 0.18 0.26 0.010 1.000 1 2009 2009
dbSNP: rs1056503
rs1056503
4 0.851 0.200 5 83353158 synonymous variant T/A;G snv 4.0E-06; 0.23 0.010 1.000 1 2014 2014
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1159838942
rs1159838942
1 1.000 0.120 11 36574757 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs12355840
rs12355840
5 0.827 0.240 10 133247608 non coding transcript exon variant C/G;T snv 1.1E-04; 0.80 0.010 1.000 1 2013 2013
dbSNP: rs12711521
rs12711521
7 0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63 0.010 1.000 1 2013 2013
dbSNP: rs12717
rs12717
2 0.925 0.160 6 170553212 missense variant G/C snv 0.42 0.38 0.010 1.000 1 2017 2017
dbSNP: rs1308699981
rs1308699981
7 0.807 0.440 1 161543085 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs13254990
rs13254990
4 0.882 0.120 8 128064205 intron variant C/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 1.000 1 2014 2014
dbSNP: rs1392080411
rs1392080411
5 0.827 0.160 19 16325934 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1494555
rs1494555
8 0.790 0.120 5 35871088 missense variant G/A snv 0.64 0.72 0.010 1.000 1 2011 2011
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2007 2007
dbSNP: rs172378
rs172378
11 0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 0.010 1.000 1 2008 2008
dbSNP: rs17749561
rs17749561
2 0.925 0.120 18 63115978 intergenic variant G/A snv 5.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs1805329
rs1805329
15 0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16 0.010 1.000 1 2014 2014
dbSNP: rs1805377
rs1805377
19 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2011 2011
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2011 2011
dbSNP: rs20575
rs20575
29 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 0.010 1.000 1 2017 2017
dbSNP: rs2228479
rs2228479
11 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2308321
rs2308321
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs2308327
rs2308327
10 0.790 0.280 10 129766906 missense variant A/G snv 9.4E-02 8.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs2621416
rs2621416
4 0.882 0.280 6 32774091 intergenic variant T/C snv 0.26 0.010 1.000 1 2014 2014