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: rs587780751
rs587780751
MUTYH
0.925 0.120 1 45332163 splice region variant T/G snv 7.6E-05 1.3E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2003 2017
dbSNP: rs587780751
rs587780751
MUTYH
0.925 0.120 1 45332163 splice region variant T/G snv 7.6E-05 1.3E-04
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 7 2003 2013
dbSNP: rs587780751
rs587780751
MUTYH
0.925 0.120 1 45332163 splice region variant T/G snv 7.6E-05 1.3E-04
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		0.700 1.000 3 2006 2010