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: rs876658355
rs876658355
APC
0.925 0.120 5 112835073 stop gained C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 4 1992 1997
dbSNP: rs876658355
rs876658355
APC
0.925 0.120 5 112835073 stop gained C/A;G;T snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
0.700 1.000 1 1992 1992
dbSNP: rs876658355
rs876658355
APC
0.925 0.120 5 112835073 stop gained C/A;G;T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 0