Source: ALL
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: rs1057519699
rs1057519699
PIK3CA
2 3 179218315 missense variant G/A snv 0.700 1.000 10 2004 2012
dbSNP: rs1057519740
rs1057519740
SMAD4
1 18 51065532 missense variant C/A snv 0.700 1.000 7 1996 2007
dbSNP: rs1057519741
rs1057519741
SMAD4
1 18 51078417 missense variant G/T snv 0.700 1.000 7 1996 2007
dbSNP: rs121913328
rs121913328
APC
1 5 112839693 stop gained C/T snv 0.700 1.000 7 1992 2015
dbSNP: rs74535574
rs74535574
APC
1 5 112839879 stop gained C/A;T snv 0.700 1.000 7 1992 2014
dbSNP: rs121913326
rs121913326
APC
1 5 112839729 stop gained G/T snv 0.700 1.000 5 1992 2015
dbSNP: rs121913329
rs121913329
APC
1 5 112839726 stop gained C/T snv 0.700 1.000 5 1994 2014
dbSNP: rs121913462
rs121913462
APC
1 5 112839510 stop gained G/A;T snv 0.700 1.000 4 1992 2015
dbSNP: rs1057519754
rs1057519754
AKT2
1 19 40236313 missense variant T/C snv 0.700 1.000 2 2005 2014
dbSNP: rs1057519760
rs1057519760
EGFR
1 7 55160314 missense variant A/G snv 0.700 1.000 1 2012 2012
dbSNP: rs1414521156
rs1414521156
SLCO6A1
1 5 102459731 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs587780424
rs587780424
PPARG
1 3 12433975 missense variant A/C snv 0.010 1.000 1 2005 2005
dbSNP: rs770292690
rs770292690
TCHP
1 12 109908872 missense variant C/T snv 5.6E-05 9.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs869312784
rs869312784
APC
1 5 112838674 missense variant A/G snv 0.700 0
dbSNP: rs1057519724
rs1057519724
PTEN
3 1.000 0.080 10 87933236 missense variant G/A;T snv 0.700 1.000 10 2004 2012
dbSNP: rs121913289
rs121913289
PTEN
4 1.000 0.080 10 87958013 frameshift variant A/- delins 0.700 1.000 10 2004 2012
dbSNP: rs1057519739
rs1057519739
SMAD4
2 1.000 0.080 18 51065518 missense variant G/A;C snv 0.700 1.000 7 1996 2007
dbSNP: rs704017
rs704017
ZMIZ1-AS1
10 0.776 0.080 10 79059375 intron variant A/G snv 0.55 0.700 1.000 6 2014 2019
dbSNP: rs727502902
rs727502902
BRAF
4 0.882 0.080 7 140753338 inframe insertion -/TAG delins 4.0E-06 0.700 1.000 6 2009 2012
dbSNP: rs11255841
rs11255841 		11 0.776 0.080 10 8697617 intergenic variant T/A snv 0.25 0.700 1.000 5 2014 2019
dbSNP: rs7229639
rs7229639
SMAD7
13 0.763 0.080 18 48924606 intron variant A/G snv 0.87 0.700 1.000 5 2014 2019
dbSNP: rs10774214
rs10774214
CCND2-AS1
9 0.790 0.080 12 4259186 intron variant T/C snv 0.54 0.700 1.000 4 2013 2019
dbSNP: rs16969681
rs16969681 		10 0.776 0.080 15 32700910 downstream gene variant C/T snv 0.11 0.710 1.000 4 2014 2019
dbSNP: rs2423279
rs2423279 		10 0.790 0.080 20 7831703 downstream gene variant T/C snv 0.29 0.700 1.000 4 2013 2019
dbSNP: rs3217810
rs3217810
CCND2
10 0.776 0.080 12 4279105 intron variant C/T snv 8.7E-02 0.700 1.000 4 2013 2019