Source: ALL

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: rs587780749
rs587780749
MUTYH
0.925 0.160 1 45332443 missense variant C/A;T snv 5.6E-05; 8.0E-06
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 7 2003 2015
dbSNP: rs587780749
rs587780749
MUTYH
0.925 0.160 1 45332443 missense variant C/A;T snv 5.6E-05; 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2002 2014
dbSNP: rs587780749
rs587780749
MUTYH
0.925 0.160 1 45332443 missense variant C/A;T snv 5.6E-05; 8.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2010 2010
dbSNP: rs587780749
rs587780749
MUTYH
0.925 0.160 1 45332443 missense variant C/A;T snv 5.6E-05; 8.0E-06
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		0.010 1.000 1 2005 2005
dbSNP: rs587780749
rs587780749
MUTYH
0.925 0.160 1 45332443 missense variant C/A;T snv 5.6E-05; 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2010 2010