rs786201856, APC

N. diseases: 10
Source: ALL
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.
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
237 0.776 0.200 5 112815507 stop gained C/T snv 0.730 1.000 3 2000 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.776 0.200 5 112815507 stop gained C/T snv 0.700 1.000 8 1992 2011
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
332 0.776 0.200 5 112815507 stop gained C/T snv 0.700 1.000 1 1994 1994
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.776 0.200 5 112815507 stop gained C/T snv 0.700 0
Desmoid disease, hereditary
CUI: C1851124
Disease: Desmoid disease, hereditary
11 0.776 0.200 5 112815507 stop gained C/T snv 0.700 0
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.776 0.200 5 112815507 stop gained C/T snv 0.700 0
Malignant neoplasm of large intestine
CUI: C0346629
Disease: Malignant neoplasm of large intestine
375 0.776 0.200 5 112815507 stop gained C/T snv 0.700 0
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
55 0.776 0.200 5 112815507 stop gained C/T snv 0.700 0
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
68 0.776 0.200 5 112815507 stop gained C/T snv 0.010 1.000 1 2003 2003
Congenital hypertrophy of retinal pigment epithelium
CUI: C0339555
Disease: Congenital hypertrophy of retinal pigment epithelium
3 0.776 0.200 5 112815507 stop gained C/T snv 0.010 1.000 1 2000 2000