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: rs121913224
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.710 1.000 12 1992 2018
dbSNP: rs121913224
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		0.700 1.000 13 1992 2015
dbSNP: rs121913224
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1992 2015
dbSNP: rs121913224
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs121913224
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		0.700 0
dbSNP: rs121913224
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C1868071
Disease: Adenomatous colonic polyposis
Adenomatous colonic polyposis 		0.700 0
dbSNP: rs121913224
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C0236048
Disease: Polyposis, Gastric
Polyposis, Gastric 		0.700 0
dbSNP: rs121913224
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C2673229
Disease: ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA
ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA 		0.700 0
dbSNP: rs121913224
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C0578477
Disease: Duodenal polyposis
Duodenal polyposis 		0.700 0
dbSNP: rs121913224
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C0021846
Disease: Intestinal Polyps
Intestinal Polyps 		0.700 0
dbSNP: rs121913224
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		0.700 0
dbSNP: rs121913224
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C4023010
Disease: Hyperplastic colonic polyposis
Hyperplastic colonic polyposis 		0.700 0
dbSNP: rs121913224
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		0.700 0