rs372267274, MUTYH

N. diseases: 5
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.
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
112 0.882 0.120 1 45333171 splice acceptor variant C/G;T snv 0.700 1.000 11 1987 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.120 1 45333171 splice acceptor variant C/G;T snv 0.700 1.000 5 2003 2013
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
36 0.882 0.120 1 45333171 splice acceptor variant C/G;T snv 0.700 1.000 3 2004 2013
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
14 0.882 0.120 1 45333171 splice acceptor variant C/G;T snv 0.700 0
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
55 0.882 0.120 1 45333171 splice acceptor variant C/G;T snv 0.700 0