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: rs730881833
rs730881833
MUTYH
0.827 0.160 1 45332242 missense variant C/A;T snv 4.0E-06; 2.8E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 1.000 4 2007 2015
dbSNP: rs730881833
rs730881833
MUTYH
0.827 0.160 1 45332242 missense variant C/A;T snv 4.0E-06; 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2007 2015
dbSNP: rs730881833
rs730881833
MUTYH
0.827 0.160 1 45332242 missense variant C/A;T snv 4.0E-06; 2.8E-05
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		0.700 1.000 4 2007 2017