Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1801155
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 0.861 34 1997 2017
dbSNP: rs1801155
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.800 0.800 10 1997 2004
dbSNP: rs786201856
rs786201856
APC
0.776 0.200 5 112815507 stop gained C/T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.730 1.000 3 2000 2016
dbSNP: rs137854580
rs137854580
APC
0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.720 1.000 2 2000 2012
dbSNP: rs1801155
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 2 1998 1999
dbSNP: rs1801155
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.720 1.000 2 1997 1998
dbSNP: rs62619935
rs62619935
APC
0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.720 1.000 2 2000 2012
dbSNP: rs72541816
rs72541816
APC
1.000 0.120 5 112843456 missense variant C/G snv 2.9E-03 3.5E-03
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.720 1.000 2 1997 2001
dbSNP: rs121913224
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.710 1.000 1 1992 2018
dbSNP: rs137854575
rs137854575
APC
0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.710 1.000 1 1992 2009
dbSNP: rs397515734
rs397515734
APC
0.827 0.120 5 112792494 stop gained C/T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.710 1.000 1 1992 2014
dbSNP: rs62619935
rs62619935
APC
0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.710 1.000 1 2012 2012
dbSNP: rs1463038513
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.853 34 1997 2017
dbSNP: rs1463038513
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 0.950 20 1997 2007
dbSNP: rs1801155
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 0.950 20 1997 2007
dbSNP: rs1463038513
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 0.824 17 1998 2016
dbSNP: rs1801155
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 0.824 17 1998 2016
dbSNP: rs1463038513
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 0.813 16 1998 2016
dbSNP: rs1801155
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 0.813 16 1998 2016
dbSNP: rs1801155
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 0.846 13 1998 2014
dbSNP: rs1463038513
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 0.917 12 1998 2013
dbSNP: rs1801166
rs1801166
APC
0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.909 11 2000 2016
dbSNP: rs1463038513
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.100 0.800 10 1997 2004
dbSNP: rs1463038513
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.100 0.800 10 1997 2004
dbSNP: rs1801155
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.100 0.800 10 1997 2004