TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Disease: Adenomatous Polyposis Coli ×
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: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.100 0.972 36 1992 2019
dbSNP: rs267607161
rs267607161 		0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.050 1.000 5 1999 2019
dbSNP: rs121918069
rs121918069 		0.925 0.200 18 31595152 missense variant T/A;G snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.020 1.000 2 2007 2008
dbSNP: rs121918075
rs121918075 		0.752 0.280 18 31598632 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 0.020 1.000 2 2005 2014
dbSNP: rs11541796
rs11541796 		0.807 0.280 18 31593011 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 0.010 1.000 1 1994 1994
dbSNP: rs121918068
rs121918068 		0.882 0.200 18 31592983 missense variant T/A;C snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs121918079
rs121918079 		0.790 0.280 18 31595143 missense variant T/C snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 1999 1999
dbSNP: rs121918080
rs121918080 		0.827 0.240 18 31595128 missense variant G/A;T snv 2.4E-05
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs121918081
rs121918081 		0.925 0.200 18 31595124 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 0.010 1.000 1 2017 2017
dbSNP: rs121918082
rs121918082 		0.827 0.280 18 31595244 missense variant G/C snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2016 2016
dbSNP: rs121918090
rs121918090 		0.790 0.240 18 31593026 missense variant G/C snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs1800458
rs1800458 		0.851 0.280 18 31592902 missense variant G/A snv 5.1E-02 5.2E-02
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2016 2016
dbSNP: rs28933981
rs28933981 		0.807 0.200 18 31598647 missense variant C/T snv 1.5E-03 1.7E-03
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 1995 1995