Source: CLINVAR

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: rs1554083930
rs1554083930
APC
0.925 0.120 5 112837657 stop gained C/A snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		0.700 0
dbSNP: rs1554083930
rs1554083930
APC
0.925 0.120 5 112837657 stop gained C/A snv
CUI: C1868071
Disease: Adenomatous colonic polyposis
Adenomatous colonic polyposis 		0.700 0
dbSNP: rs1554083930
rs1554083930
APC
0.925 0.120 5 112837657 stop gained C/A snv
CUI: C0578477
Disease: Duodenal polyposis
Duodenal polyposis 		0.700 0