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: rs587778536
rs587778536
MUTYH
0.882 0.120 1 45331700 frameshift variant G/- delins 6.4E-05 4.2E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 11 2003 2013
dbSNP: rs587778536
rs587778536
MUTYH
0.882 0.120 1 45331700 frameshift variant G/- delins 6.4E-05 4.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 2003 2017
dbSNP: rs587778536
rs587778536
MUTYH
0.882 0.120 1 45331700 frameshift variant G/- delins 6.4E-05 4.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 4 2006 2009
dbSNP: rs587778536
rs587778536
MUTYH
0.882 0.120 1 45331700 frameshift variant G/- delins 6.4E-05 4.2E-05
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		0.700 1.000 3 2008 2009