rs121908380, MUTYH

N. diseases: 3
Source: CLINVAR ×
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.
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
98 0.882 0.160 1 45333449 stop gained G/A;T snv 1.4E-03; 1.2E-04 0.700 1.000 11 2002 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.882 0.160 1 45333449 stop gained G/A;T snv 1.4E-03; 1.2E-04 0.700 1.000 4 2002 2017
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
24 0.882 0.160 1 45333449 stop gained G/A;T snv 1.4E-03; 1.2E-04 0.700 1.000 2 2008 2009