rs121913224, APC

N. diseases: 14
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
237 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.710 1.000 13 1992 2018
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
332 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.700 1.000 13 1992 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.700 1.000 7 1992 2015
Adenocarcinoma of colon
CUI: C0338106
Disease: Adenocarcinoma of colon
10 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.700 0
Adenomatous colonic polyposis
CUI: C1868071
Disease: Adenomatous colonic polyposis
5 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.700 0
ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA
1 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.700 0
Duodenal polyposis
CUI: C0578477
Disease: Duodenal polyposis
2 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.700 0
Gardner Syndrome
CUI: C0017097
Disease: Gardner Syndrome
13 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.700 0
Hyperplastic colonic polyposis
CUI: C4023010
Disease: Hyperplastic colonic polyposis
1 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.700 0
Intestinal Polyps
CUI: C0021846
Disease: Intestinal Polyps
1 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.700 0
Malignant neoplasm of large intestine
375 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.700 0
Polyposis, Gastric
CUI: C0236048
Disease: Polyposis, Gastric
4 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.700 0
Atrial Premature Complexes
CUI: C0033036
Disease: Atrial Premature Complexes
21 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.010 1.000 1 2018 2018