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: 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: rs1057519699
rs1057519699
PIK3CA
2 3 179218315 missense variant G/A snv 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: rs1554774973
rs1554774973
NTRK2
2 1.000 0.120 9 84955504 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs863225349
rs863225349
APC
2 1.000 0.120 5 112839531 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: rs121913327
rs121913327
APC
3 0.925 0.120 5 112839606 stop gained C/G;T snv 0.700 1.000 8 1992 2015
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: rs370662884
rs370662884
CTNNB1
3 0.925 0.080 3 41225816 synonymous variant G/A snv 3.2E-05 4.9E-05 0.010 1.000 1 2003 2003
dbSNP: rs121913289
rs121913289
PTEN
4 1.000 0.080 10 87958013 frameshift variant A/- delins 0.700 1.000 10 2004 2012
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: rs1057519908
rs1057519908
MAP2K1
4 0.882 0.120 15 66435105 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913236
rs121913236
KRAS
4 0.882 0.160 12 25245321 missense variant G/C;T snv 0.700 1.000 1 2014 2014