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: rs121908380
rs121908380
MUTYH
0.882 0.160 1 45333449 stop gained G/A;T snv 1.4E-03; 1.2E-04
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 11 2002 2015
dbSNP: rs121908380
rs121908380
MUTYH
0.882 0.160 1 45333449 stop gained G/A;T snv 1.4E-03; 1.2E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2002 2017
dbSNP: rs121908380
rs121908380
MUTYH
0.882 0.160 1 45333449 stop gained G/A;T snv 1.4E-03; 1.2E-04
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		0.700 1.000 2 2008 2009