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: rs121913333
rs121913333
APC
0.882 0.120 5 112838220 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2000 2016
dbSNP: rs121913333
rs121913333
APC
0.882 0.120 5 112838220 stop gained C/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 4 1992 2014
dbSNP: rs121913333
rs121913333
APC
0.882 0.120 5 112838220 stop gained C/A;T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.700 0
dbSNP: rs121913333
rs121913333
APC
0.882 0.120 5 112838220 stop gained C/A;T snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		0.700 0
dbSNP: rs121913333
rs121913333
APC
0.882 0.120 5 112838220 stop gained C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2015 2016
dbSNP: rs121913333
rs121913333
APC
0.882 0.120 5 112838220 stop gained C/A;T snv
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		0.010 1.000 1 2016 2016