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: rs387906234
rs387906234
APC
0.827 0.120 5 112839979 frameshift variant AGAG/-;AG delins
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		0.700 1.000 11 1992 2016
dbSNP: rs387906234
rs387906234
APC
0.827 0.120 5 112839979 frameshift variant AGAG/-;AG delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1997 2010
dbSNP: rs387906234
rs387906234
APC
0.827 0.120 5 112839979 frameshift variant AGAG/-;AG delins
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.700 0
dbSNP: rs387906234
rs387906234
APC
0.827 0.120 5 112839979 frameshift variant AGAG/-;AG delins
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		0.700 0
dbSNP: rs387906234
rs387906234
APC
0.827 0.120 5 112839979 frameshift variant AGAG/-;AG delins
CUI: C1707251
Disease: Cancer Other
Cancer Other 		0.700 0
dbSNP: rs387906234
rs387906234
APC
0.827 0.120 5 112839979 frameshift variant AGAG/-;AG delins
CUI: C1858438
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO
COLORECTAL CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs387906234
rs387906234
APC
0.827 0.120 5 112839979 frameshift variant AGAG/-;AG delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0