Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs864622228
rs864622228
APC
0.925 0.120 5 112841416 frameshift variant CAGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 1996 2000
dbSNP: rs864622228
rs864622228
APC
0.925 0.120 5 112841416 frameshift variant CAGA/- delins
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary
0.700 0
dbSNP: rs864622228
rs864622228
APC
0.925 0.120 5 112841416 frameshift variant CAGA/- delins
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.700 0