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: rs1019221239
rs1019221239
APC
0.925 0.120 5 112835093 stop gained T/A;C;G snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 1997 1997
dbSNP: rs1019221239
rs1019221239
APC
0.925 0.120 5 112835093 stop gained T/A;C;G snv 4.0E-06
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		0.700 0
dbSNP: rs1019221239
rs1019221239
APC
0.925 0.120 5 112835093 stop gained T/A;C;G snv 4.0E-06
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.700 0