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: rs587780082
rs587780082
MUTYH
0.925 0.120 1 45331835 stop gained G/A snv 8.2E-05 3.5E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 2003 2017
dbSNP: rs587780082
rs587780082
MUTYH
0.925 0.120 1 45331835 stop gained G/A snv 8.2E-05 3.5E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 5 1990 2014
dbSNP: rs587780082
rs587780082
MUTYH
0.925 0.120 1 45331835 stop gained G/A snv 8.2E-05 3.5E-05
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		0.700 0