rs121913331, APC

N. diseases: 5
Source: CLINVAR ×
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.
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
332 0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 0.700 1.000 7 1992 2014
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
216 0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 0.700 1.000 5 1990 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 0.700 1.000 4 1992 2013
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
211 0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 0.700 1.000 2 2008 2014
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
154 0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 0.700 0