Source: CURATED

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: rs587782228
rs587782228
MUTYH
0.882 0.120 1 45330557 missense variant C/A;T snv 4.2E-06; 4.2E-06
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 1.000 29 2002 2017
dbSNP: rs587782228
rs587782228
MUTYH
0.882 0.120 1 45330557 missense variant C/A;T snv 4.2E-06; 4.2E-06
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		0.700 1.000 11 2006 2015
dbSNP: rs587782228
rs587782228
MUTYH
0.882 0.120 1 45330557 missense variant C/A;T snv 4.2E-06; 4.2E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2006 2015