rs121913333, APC

N. diseases: 6
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.120 5 112838220 stop gained C/A;T snv 0.700 1.000 7 2000 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.882 0.120 5 112838220 stop gained C/A;T snv 0.700 1.000 4 1992 2014
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
237 0.882 0.120 5 112838220 stop gained C/A;T snv 0.700 0
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
332 0.882 0.120 5 112838220 stop gained C/A;T snv 0.700 0
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.882 0.120 5 112838220 stop gained C/A;T snv 0.020 1.000 2 2015 2016
Gardner Syndrome
CUI: C0017097
Disease: Gardner Syndrome
13 0.882 0.120 5 112838220 stop gained C/A;T snv 0.010 1.000 1 2016 2016