APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Disease: Gardner Syndrome ×
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: rs121913224
rs121913224 		0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs137854567
rs137854567 		0.882 0.120 5 112819272 missense variant C/A;G;T snv 4.0E-06; 6.7E-04
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs137854568
rs137854568 		0.882 0.120 5 112815564 stop gained C/T snv
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs137854569
rs137854569 		0.882 0.120 5 112815499 stop gained C/G;T snv
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs137854570
rs137854570 		1.000 0.120 5 112837732 stop gained C/G snv
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs137854580
rs137854580 		0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs137854582
rs137854582 		0.925 0.120 5 112837687 stop gained T/A;G snv
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs137854583
rs137854583 		1.000 0.120 5 112780880 stop gained C/A;T snv
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs387906234
rs387906234 		0.827 0.120 5 112839979 frameshift variant AGAG/-;AG delins
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs387906236
rs387906236 		0.925 0.120 5 112840205 frameshift variant GA/- delins
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121913333
rs121913333 		0.882 0.120 5 112838220 stop gained C/A;T snv
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs758987855
rs758987855 		0.925 0.120 5 112840581 stop gained G/A;T snv
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009