rs137854573, APC

N. diseases: 8
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.807 0.120 5 112828889 stop gained C/T snv 0.700 1.000 9 1992 2016
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
332 0.807 0.120 5 112828889 stop gained C/T snv 0.700 1.000 8 1992 2016
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
154 0.807 0.120 5 112828889 stop gained C/T snv 0.700 1.000 6 1992 2011
COLORECTAL CANCER, SUSCEPTIBILITY TO
CUI: C1858438
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO
8 0.807 0.120 5 112828889 stop gained C/T snv 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
100 0.807 0.120 5 112828889 stop gained C/T snv 0.700 0
Desmoid disease, hereditary
CUI: C1851124
Disease: Desmoid disease, hereditary
11 0.807 0.120 5 112828889 stop gained C/T snv 0.700 0
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
142 0.807 0.120 5 112828889 stop gained C/T snv 0.700 0
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
47 0.807 0.120 5 112828889 stop gained C/T snv 0.700 0