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: rs137854568
rs137854568
APC
0.882 0.120 5 112815564 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 12 1991 2013
dbSNP: rs137854568
rs137854568
APC
0.882 0.120 5 112815564 stop gained C/T snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.700 1.000 6 1991 2013
dbSNP: rs137854568
rs137854568
APC
0.882 0.120 5 112815564 stop gained C/T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 0
dbSNP: rs137854568
rs137854568
APC
0.882 0.120 5 112815564 stop gained C/T snv
COLORECTAL CANCER, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs137854568
rs137854568
APC
0.882 0.120 5 112815564 stop gained C/T snv
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome
0.700 0