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: rs1227480017
rs1227480017
1 2 10122697 synonymous variant C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs12613347
rs12613347
1 2 201190589 intron variant C/T snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs143752852
rs143752852
1 3 49902723 missense variant A/G snv 8.8E-05 5.6E-05 0.010 1.000 1 2000 2000
dbSNP: rs150423237
rs150423237
1 7 55173087 missense variant G/A snv 2.1E-04 2.4E-04 0.010 1.000 1 2017 2017
dbSNP: rs16906079
rs16906079
1 9 117712651 missense variant A/G snv 6.5E-04 4.3E-04 0.010 1.000 1 2006 2006
dbSNP: rs17429138
rs17429138
1 3 189527804 intergenic variant A/G snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs199647144
rs199647144
1 1 156842109 missense variant T/C;G snv 8.8E-05; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs3764221
rs3764221
1 15 51296650 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4396880
rs4396880
1 3 189638432 intron variant G/A snv 0.34 0.010 1.000 1 2011 2011
dbSNP: rs542027040
rs542027040
1 17 39724864 missense variant C/T snv 1.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs736775
rs736775
1 5 151029787 downstream gene variant T/C snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs750749
rs750749
1 6 14141866 downstream gene variant T/C snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs779577244
rs779577244
1 10 32017334 missense variant C/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs782212015
rs782212015
1 19 41721077 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2020 2020
dbSNP: rs8038415
rs8038415
1 15 98956205 intron variant T/C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs863225307
rs863225307
APC
1 5 112819077 stop gained C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs9370729
rs9370729
1 6 14138061 downstream gene variant C/T snv 0.44 0.010 1.000 1 2009 2009
dbSNP: rs10503380
rs10503380
2 1.000 0.080 8 9552985 upstream gene variant C/T snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs11466345
rs11466345
2 1.000 0.080 19 41337556 intron variant T/C snv 0.12 0.010 1.000 1 2008 2008
dbSNP: rs11991621
rs11991621
2 1.000 0.080 8 9549072 intergenic variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs12541709
rs12541709
2 1.000 0.080 8 9751081 intron variant C/G snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs586339
rs586339
2 1.000 0.080 1 43671586 missense variant C/A;G;T snv 0.70 0.78 0.010 1.000 1 2017 2017
dbSNP: rs6601328
rs6601328
2 1.000 0.080 8 9545693 regulatory region variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs7015700
rs7015700
2 1.000 0.080 8 9670197 splice donor variant G/A snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs764664272
rs764664272
2 1.000 0.120 16 55484060 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2015 2015