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: rs587780078
rs587780078
MUTYH
0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		0.710 1.000 5 2009 2020
dbSNP: rs587780078
rs587780078
MUTYH
0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 2004 2017
dbSNP: rs587780078
rs587780078
MUTYH
0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 9 2004 2015
dbSNP: rs587780078
rs587780078
MUTYH
0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 6 2004 2012