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: rs863225349
rs863225349
APC
2 1.000 0.120 5 112839531 missense variant A/G snv 0.700 0
dbSNP: rs869312784
rs869312784
APC
1 5 112838674 missense variant A/G snv 0.700 0
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
dbSNP: rs121913332
rs121913332
APC
5 0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06 0.700 1.000 12 1992 2015
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: 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: rs121913333
rs121913333
APC
6 0.882 0.120 5 112838220 stop gained C/A;T snv 0.700 1.000 4 1992 2014
dbSNP: rs121913462
rs121913462
APC
1 5 112839510 stop gained G/A;T snv 0.700 1.000 4 1992 2015
dbSNP: rs121913329
rs121913329
APC
1 5 112839726 stop gained C/T snv 0.700 1.000 5 1994 2014
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: 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: rs281875324
rs281875324
SMAD4
3 1.000 0.120 18 51065456 missense variant A/C;G snv 0.700 1.000 7 1996 2007
dbSNP: rs2229080
rs2229080
DCC
16 0.742 0.320 18 52906232 missense variant C/A;G snv 0.45 0.010 1.000 1 1997 1997
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.030 1.000 3 1998 2005
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.030 1.000 3 1998 2005
dbSNP: rs1801166
rs1801166
APC
17 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.010 1.000 1 1998 1998
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.790 0.970 33 2002 2019
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: 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