rs587778541, 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 0.925 0.120 1 45331219 inframe deletion CCT/- delins 9.5E-05 2.8E-05 0.700 1.000 20 2003 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.925 0.120 1 45331219 inframe deletion CCT/- delins 9.5E-05 2.8E-05 0.700 1.000 8 2003 2017
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
24 0.925 0.120 1 45331219 inframe deletion CCT/- delins 9.5E-05 2.8E-05 0.700 1.000 6 2009 2016