Source: CLINVAR

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: rs769237459
rs769237459
MUTYH
1.000 0.120 1 45332279 missense variant G/A snv 8.0E-06
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 1.000 8 2002 2017
dbSNP: rs769237459
rs769237459
MUTYH
1.000 0.120 1 45332279 missense variant G/A snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2005 2016