rs137854580, APC

N. diseases: 6
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 0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05 0.720 1.000 2 2000 2012
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
332 0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05 0.700 1.000 9 1993 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05 0.700 1.000 6 1993 2011
Gardner Syndrome
CUI: C0017097
Disease: Gardner Syndrome
13 0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05 0.010 1.000 1 2012 2012
Congenital hypertrophy of retinal pigment epithelium
CUI: C0339555
Disease: Congenital hypertrophy of retinal pigment epithelium
3 0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05 0.010 1.000 1 2000 2000