rs137854572, APC

N. diseases: 4
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 112828001 stop gained C/T snv 0.700 1.000 5 1992 2005
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
332 0.882 0.120 5 112828001 stop gained C/T snv 0.700 1.000 1 2001 2001
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
237 0.882 0.120 5 112828001 stop gained C/T snv 0.700 0
BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)
CUI: C2673218
Disease: BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)
2 0.882 0.120 5 112828001 stop gained C/T snv 0.700 0