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: rs1057519725
rs1057519725
KRAS
6 0.851 0.320 12 25225627 missense variant G/A snv 7.0E-06 0.700 1.000 8 2005 2011
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 8 2006 2016
dbSNP: rs121913327
rs121913327
APC
3 0.925 0.120 5 112839606 stop gained C/G;T snv 0.700 1.000 8 1992 2015
dbSNP: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.700 1.000 8 2002 2016
dbSNP: rs121913527
rs121913527
KRAS
9 0.807 0.320 12 25225628 missense variant C/A;G;T snv 0.700 1.000 8 2005 2011
dbSNP: rs377767347
rs377767347
SMAD4
14 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 1.000 8 1996 2016
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.700 1.000 8 2008 2019
dbSNP: rs4939827
rs4939827
SMAD7
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.700 1.000 8 2007 2019
dbSNP: rs80338963
rs80338963
SMAD4
11 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.700 1.000 8 1996 2016
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: 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: rs121913351
rs121913351
BRAF
9 0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 7 2002 2016
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 7 2002 2016
dbSNP: rs121913361
rs121913361
BRAF
7 0.807 0.280 7 140753349 missense variant C/A;G;T snv 0.700 1.000 7 2002 2014
dbSNP: rs281875324
rs281875324
SMAD4
3 1.000 0.120 18 51065456 missense variant A/C;G snv 0.700 1.000 7 1996 2007
dbSNP: rs74535574
rs74535574
APC
1 5 112839879 stop gained C/A;T snv 0.700 1.000 7 1992 2014
dbSNP: rs16892766
rs16892766 		18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.700 1.000 6 2008 2019
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: 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: rs121913331
rs121913331
APC
11 0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 0.700 1.000 5 1990 2014