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: rs10484561
rs10484561
6 0.827 0.160 6 32697643 intergenic variant T/G snv 0.13 0.770 1.000 7 2010 2014
dbSNP: rs6457327
rs6457327
7 0.790 0.320 6 31106253 downstream gene variant A/C snv 0.66 0.750 1.000 5 2009 2014
dbSNP: rs2647012
rs2647012
7 0.790 0.320 6 32696681 intergenic variant T/C snv 0.64 0.740 0.750 4 2011 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2009 2014
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2015 2016
dbSNP: rs12917
rs12917
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.020 1.000 2 2012 2014
dbSNP: rs144848
rs144848
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 1.000 2 2012 2014
dbSNP: rs3117222
rs3117222
3 0.882 0.280 6 33093172 intron variant C/T snv 0.33 0.720 1.000 2 2012 2014
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.020 1.000 2 2016 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2009 2013
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: rs13198610
rs13198610
1 1.000 0.120 6 32457895 downstream gene variant G/T snv 0.13 0.700 1.000 1 2012 2012
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: rs1493202
rs1493202
1 1.000 0.120 8 70993352 intron variant T/G snv 0.41 0.700 1.000 1 2012 2012
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