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: rs587779352
rs587779352
APC
0.882 0.120 5 112838774 frameshift variant ACAAA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 11 1992 2016
dbSNP: rs587779352
rs587779352
APC
0.882 0.120 5 112838774 frameshift variant ACAAA/- delins
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		0.700 1.000 9 1992 2015
dbSNP: rs587779352
rs587779352
APC
0.882 0.120 5 112838774 frameshift variant ACAAA/- delins
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.700 1.000 4 1992 2013
dbSNP: rs587779352
rs587779352
APC
0.882 0.120 5 112838774 frameshift variant ACAAA/- delins
CUI: C1868071
Disease: Adenomatous colonic polyposis
Adenomatous colonic polyposis 		0.700 0
dbSNP: rs587779352
rs587779352
APC
0.882 0.120 5 112838774 frameshift variant ACAAA/- delins
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma 		0.700 0