rs63750138, MSH6;FBXO11

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.
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.851 0.160 2 47800297 missense variant C/A;G;T snv 2.0E-05; 8.0E-06 0.720 1.000 13 2001 2019
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
78 0.851 0.160 2 47800297 missense variant C/A;G;T snv 2.0E-05; 8.0E-06 0.700 1.000 9 1997 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.160 2 47800297 missense variant C/A;G;T snv 2.0E-05; 8.0E-06 0.700 1.000 7 1994 2015
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.851 0.160 2 47800297 missense variant C/A;G;T snv 2.0E-05; 8.0E-06 0.700 1.000 2 2013 2017
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
237 0.851 0.160 2 47800297 missense variant C/A;G;T snv 2.0E-05; 8.0E-06 0.010 1.000 1 2008 2008
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
65 0.851 0.160 2 47800297 missense variant C/A;G;T snv 2.0E-05; 8.0E-06 0.010 1.000 1 2008 2008