MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
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: rs36053993
rs36053993 		0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.800 1.000 43 2002 2016
dbSNP: rs140342925
rs140342925 		0.882 0.120 1 45332445 missense variant C/T snv 8.4E-05 8.4E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.800 1.000 30 2002 2017
dbSNP: rs529008617
rs529008617 		0.851 0.160 1 45331529 missense variant G/A snv 7.2E-05 2.8E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.800 1.000 30 2002 2017
dbSNP: rs587782228
rs587782228 		0.882 0.120 1 45330557 missense variant C/A;T snv 4.2E-06; 4.2E-06
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.800 1.000 29 2002 2017
dbSNP: rs34612342
rs34612342 		0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.800 1.000 23 2002 2017
dbSNP: rs374950566
rs374950566 		1.000 0.120 1 45332215 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.800 1.000 23 2002 2016
dbSNP: rs34126013
rs34126013 		0.925 0.160 1 45332458 missense variant G/A snv 6.8E-05 2.1E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.800 1.000 22 2002 2016
dbSNP: rs769237459
rs769237459 		1.000 0.120 1 45332279 missense variant G/A snv 8.0E-06
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.800 1.000 20 2002 2017
dbSNP: rs34612342
rs34612342 		0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.800 1.000 17 2002 2019
dbSNP: rs36053993
rs36053993 		0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.800 0.941 17 2002 2019
dbSNP: rs876659676
rs876659676 		1.000 0.120 1 45332252 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.800 1.000 17 2002 2016
dbSNP: rs747993448
rs747993448 		1.000 0.120 1 45332795 missense variant G/A snv 4.0E-06 2.8E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.800 1.000 16 2004 2017
dbSNP: rs143353451
rs143353451 		0.851 0.120 1 45332794 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.800 1.000 14 2004 2017
dbSNP: rs34612342
rs34612342 		0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 14 2005 2019
dbSNP: rs730881833
rs730881833 		0.827 0.160 1 45332242 missense variant C/A;T snv 4.0E-06; 2.8E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.800 1.000 4 2007 2015
dbSNP: rs1057517765
rs1057517765 		1.000 0.120 1 45332466 missense variant T/C;G snv
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.800 1.000 3 2008 2009
dbSNP: rs371848318
rs371848318 		1.000 0.040 1 45341543 missense variant G/A snv 8.0E-06
CUI: C3554226
Disease: Congenital pontocerebellar hypoplasia type 7
Congenital pontocerebellar hypoplasia type 7 		Nervous System Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1060501335
rs1060501335 		0.925 0.120 1 45331684 missense variant A/G snv
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.800 0
dbSNP: rs36053993
rs36053993 		0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.770 1.000 14 2005 2017
dbSNP: rs140342925
rs140342925 		0.882 0.120 1 45332445 missense variant C/T snv 8.4E-05 8.4E-05
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.710 1.000 5 2005 2015
dbSNP: rs587780078
rs587780078 		0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.710 1.000 5 2009 2020
dbSNP: rs34612342
rs34612342 		0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.710 1.000 1 2015 2015
dbSNP: rs36053993
rs36053993 		0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 23 2002 2014
dbSNP: rs150792276
rs150792276 		1.000 0.120 1 45331467 missense variant G/A snv 8.2E-04 8.0E-04
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 22 2002 2017
dbSNP: rs200844166
rs200844166 		0.882 0.160 1 45331240 missense variant G/T snv 2.4E-05 5.6E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 22 2002 2017