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: rs454886
rs454886 		0.763 0.280 5 112810420 intron variant A/G snv 0.26
CUI: C0038362
Disease: Stomatitis
Stomatitis 		Stomatognathic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs454886
rs454886 		0.763 0.280 5 112810420 intron variant A/G snv 0.26
CUI: C1568868
Disease: Oral Mucositis
Oral Mucositis 		Stomatognathic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs454886
rs454886 		0.763 0.280 5 112810420 intron variant A/G snv 0.26
CUI: C0011603
Disease: Dermatitis
Dermatitis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1463038513
rs1463038513 		0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 1998 2007
dbSNP: rs1801155
rs1801155 		0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 1998 2007
dbSNP: rs1801166
rs1801166 		0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2003 2009
dbSNP: rs777980327
rs777980327 		0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2010 2013
dbSNP: rs121913331
rs121913331 		0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs137854573
rs137854573 		0.807 0.120 5 112828889 stop gained C/T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs137854574
rs137854574 		0.925 0.120 5 112828919 stop gained C/T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2229992
rs2229992 		0.827 0.200 5 112827157 stop gained T/C;G snv 0.58 0.47
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1463038513
rs1463038513 		0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.020 1.000 2 1999 2000
dbSNP: rs1801155
rs1801155 		0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.020 1.000 2 1999 2000
dbSNP: rs747418061
rs747418061 		0.807 0.200 5 112828920 missense variant G/A snv 3.2E-05 7.0E-06
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 1998 1998
dbSNP: rs1463038513
rs1463038513 		0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.060 1.000 6 1998 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: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.060 1.000 6 1998 2015
dbSNP: rs459552
rs459552 		0.752 0.320 5 112841059 missense variant T/A;G snv 0.79
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.030 1.000 3 2003 2010
dbSNP: rs1801166
rs1801166 		0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2007 2015
dbSNP: rs1179254201
rs1179254201 		0.925 0.200 5 112767213 missense variant T/C snv 4.0E-06
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1182822563
rs1182822563 		0.925 0.200 5 112828939 synonymous variant A/G snv 4.0E-06
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121913224
rs121913224 		0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1331131200
rs1331131200 		0.925 0.200 5 112827976 synonymous variant A/G snv 4.0E-06 7.0E-06
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs150973053
rs150973053 		0.851 0.200 5 112767356 missense variant A/G snv 3.5E-04 2.7E-04
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs374853436
rs374853436 		0.925 0.200 5 112843972 missense variant G/A snv 1.4E-05
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs454886
rs454886 		0.763 0.280 5 112810420 intron variant A/G snv 0.26
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2008 2008