rs137854567, APC

N. diseases: 3
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 0.882 0.120 5 112819272 missense variant C/A;G;T snv 4.0E-06; 6.7E-04 0.700 1.000 20 1991 2017
Gardner Syndrome
CUI: C0017097
Disease: Gardner Syndrome
13 0.882 0.120 5 112819272 missense variant C/A;G;T snv 4.0E-06; 6.7E-04 0.700 0
melanoma
CUI: C0025202
Disease: melanoma
515 0.882 0.120 5 112819272 missense variant C/A;G;T snv 4.0E-06; 6.7E-04 0.010 1.000 1 2018 2018