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: rs505922
rs505922
24 0.724 0.357 None NA snp 0.37 0.030 1.000 3 2009 2015
dbSNP: rs10887710
rs10887710
2 0.923 0.107 10 80270029 intergenic variant T/C snp 0.20 0.010 1.000 1 2013 2013
dbSNP: rs12029406
rs12029406
3 0.878 0.107 1 199936700 intergenic variant C/T snp 0.38 0.010 1.000 1 2016 2016
dbSNP: rs1387153
rs1387153
10 0.769 0.250 11 92940662 intergenic variant C/G,T snp 0.33 0.010 1.000 1 2011 2011
dbSNP: rs1552462
rs1552462
2 0.923 0.107 11 7235910 intergenic variant C/T snp 2.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs17878362
rs17878362
5 0.821 0.143 17 7676372 intron variant T/. microsatellite 0.010 1.000 1 2010 2010
dbSNP: rs189772026
rs189772026
3 0.923 0.107 4 152347046 missense variant C/T snp 8.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs243021
rs243021
3 0.878 0.143 2 60357684 intergenic variant G/A snp 0.45 0.010 1.000 1 2011 2011
dbSNP: rs619824
rs619824
4 0.846 0.143 10 102821531 intergenic variant A/C snp 0.49 0.010 1.000 1 2013 2013
dbSNP: rs6983561
rs6983561
4 0.846 0.143 8 127094635 intron variant A/C snp 0.16 0.010 1.000 1 2010 2010
dbSNP: rs889312
rs889312
12 0.734 0.179 5 56736057 regulatory region variant C/A snp 0.69 0.010 1.000 1 2010 2010
dbSNP: rs1229984
rs1229984
50 0.622 0.393 4 99318162 missense variant T/C,G snp 0.90 0.94 0.020 1.000 2 2010 2011
dbSNP: rs150495372
rs150495372
2 0.923 0.107 4 99313834 missense variant C/T snp 3.7E-04 0.010 1.000 1 2011 2011
dbSNP: rs35385902
rs35385902
5 0.846 0.179 4 99347122 missense variant C/A,T snp 2.0E-05; 1.1E-03 6.4E-05; 3.4E-03 0.020 1.000 2 2010 2011
dbSNP: rs1693482
rs1693482
9 0.801 0.214 4 99342808 missense variant C/T snp 0.34 0.34 0.010 1.000 1 2011 2011
dbSNP: rs698
rs698
13 0.744 0.179 4 99339632 missense variant T/A,C snp 0.35 0.34 0.010 1.000 1 2010 2010
dbSNP: rs1501299
rs1501299
28 0.647 0.536 3 186853334 intron variant G/C,T snp 6.4E-05; 0.30 0.010 1.000 1 2015 2015
dbSNP: rs4994
rs4994
44 0.605 0.536 8 37966280 missense variant A/G snp 0.11 9.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs201745983
rs201745983
4 0.878 0.179 12 111783219 missense variant G/A snp 6.8E-05 6.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs671
rs671
61 0.593 0.464 12 111803962 missense variant G/A snp 1.9E-02 1.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs2431238
rs2431238
APC
2 0.923 0.107 5 112788672 intron variant T/C,G snp 0.67; 4.6E-03 0.010 1.000 1 2010 2010
dbSNP: rs1801516
rs1801516
ATM
15 0.715 0.214 11 108304735 missense variant G/A snp 0.11 0.11 0.010 1.000 1 2009 2009
dbSNP: rs786203926
rs786203926
ATM
4 0.878 0.107 11 108227678 synonymous variant T/C snp 0.010 1.000 1 2009 2009
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.030 0.667 3 2003 2016
dbSNP: rs11571833
rs11571833
23 0.652 0.250 13 32398489 stop gained A/T snp 6.6E-03 5.4E-03 0.010 1.000 1 2005 2005