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: rs755683317
rs755683317
3 21 10567746 missense variant G/A;C snv 2.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs778826879
rs778826879
3 16 30121948 missense variant C/G;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 20 2006 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 20 2006 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2014 2018
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2005 2010