APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1801155
rs1801155 		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 		Digestive System Diseases; Neoplasms 0.800 0.861 36 1997 2017
dbSNP: rs1801155
rs1801155 		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 		Digestive System Diseases; Neoplasms 0.800 0.800 10 1997 2004
dbSNP: rs786201856
rs786201856 		0.776 0.200 5 112815507 stop gained C/T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.730 1.000 3 2000 2016
dbSNP: rs137854580
rs137854580 		0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.720 1.000 2 2000 2012
dbSNP: rs1801155
rs1801155 		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 		Neoplasms; Skin and Connective Tissue Diseases 0.720 1.000 2 1998 1999
dbSNP: rs1801155
rs1801155 		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 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.720 1.000 2 1997 1998
dbSNP: rs62619935
rs62619935 		0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.720 1.000 2 2000 2012
dbSNP: rs72541816
rs72541816 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.720 1.000 2 1997 2001
dbSNP: rs137854575
rs137854575 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.710 1.000 16 1992 2009
dbSNP: rs121913224
rs121913224 		0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.710 1.000 13 1992 2018
dbSNP: rs397515734
rs397515734 		0.827 0.120 5 112792494 stop gained C/T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.710 1.000 12 1992 2014
dbSNP: rs62619935
rs62619935 		0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.710 1.000 1 2012 2012
dbSNP: rs137854567
rs137854567 		0.882 0.120 5 112819272 missense variant C/A;G;T snv 4.0E-06; 6.7E-04
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 20 1991 2017
dbSNP: rs371113837
rs371113837 		1.000 0.120 5 112839469 missense variant C/T snv 8.8E-05 1.0E-04
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 20 1991 2017
dbSNP: rs863225349
rs863225349 		1.000 0.120 5 112839531 missense variant A/G snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 20 1991 2017
dbSNP: rs137854575
rs137854575 		0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 19 1991 2015
dbSNP: rs1801155
rs1801155 		0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 15 1997 2017
dbSNP: rs1801155
rs1801155 		0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 14 1997 2014
dbSNP: rs876658667
rs876658667 		1.000 0.120 5 112838740 stop gained G/A snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 14 1992 2011
dbSNP: rs121913224
rs121913224 		0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 13 1992 2015
dbSNP: rs121913332
rs121913332 		0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 12 1992 2015
dbSNP: rs137854568
rs137854568 		0.882 0.120 5 112815564 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 12 1991 2013
dbSNP: rs1131691143
rs1131691143 		0.925 0.120 5 112838394 frameshift variant TTAC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 11 1994 2017
dbSNP: rs139196838
rs139196838 		1.000 0.120 5 112767263 missense variant C/A;T snv 4.0E-06; 3.9E-04
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 11 1991 2016
dbSNP: rs387906234
rs387906234 		0.827 0.120 5 112839979 frameshift variant AGAG/-;AG delins
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 11 1992 2016