rs864622228, APC

N. diseases: 3
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 0.925 0.120 5 112841416 frameshift variant CAGA/- delins 0.700 1.000 2 1996 2000
Desmoid disease, hereditary
CUI: C1851124
Disease: Desmoid disease, hereditary
11 0.925 0.120 5 112841416 frameshift variant CAGA/- delins 0.700 0
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
332 0.925 0.120 5 112841416 frameshift variant CAGA/- delins 0.700 0