rs62619935, APC

N. diseases: 8
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.
Congenital hypertrophy of retinal pigment epithelium
CUI: C0339555
Disease: Congenital hypertrophy of retinal pigment epithelium
3 0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2000 2000
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
332 0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 0.700 1.000 7 1999 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 0.700 1.000 6 1994 2016
Desmoid disease, hereditary
CUI: C1851124
Disease: Desmoid disease, hereditary
11 0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 0.700 0
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 0.700 0
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
55 0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 0.710 1.000 1 2012 2012
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
237 0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 0.720 1.000 2 2000 2012