Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs36053993
rs36053993
MUTYH
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 		0.800 1.000 34 2002 2016
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 0.941 5 2002 2019
dbSNP: rs36053993
rs36053993
MUTYH
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 		0.770 1.000 7 2005 2017
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.700 1.000 23 2002 2014
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 13 2009 2015
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C1868072
Disease: Small intestine carcinoid
Small intestine carcinoid 		0.700 1.000 1 2017 2017
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C4016911
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS 		0.700 0
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.700 0
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.700 0