rs34612342, MUTYH

N. diseases: 32
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Adenoma
CUI: C0001430
Disease: Adenoma
103 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.030 1.000 3 2010 2015
polyps
CUI: C0032584
Disease: polyps
18 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.030 1.000 3 2012 2019
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.050 1.000 5 2002 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.700 1.000 8 2006 2017
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
36 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.800 1.000 14 2005 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.800 1.000 17 2002 2019
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
112 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.800 1.000 23 2002 2017