MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
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: rs36053993
rs36053993 		0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.030 1.000 3 2003 2008
dbSNP: rs1057517457
rs1057517457 		0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06
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 2013 2015
dbSNP: rs34612342
rs34612342 		0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
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 2003 2007
dbSNP: rs730881833
rs730881833 		0.827 0.160 1 45332242 missense variant C/A;T snv 4.0E-06; 2.8E-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 2008 2008