rs121913332, APC

N. diseases: 4
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.
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
216 0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06 0.700 1.000 12 1992 2015
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
332 0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06 0.700 1.000 8 1993 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06 0.700 1.000 7 1993 2016
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
154 0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06 0.700 0