rs63750393, MSH2

N. diseases: 4
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.160 2 47471007 frameshift variant GA/-;GAGA delins 0.700 1.000 11 1997 2017
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.925 0.160 2 47471007 frameshift variant GA/-;GAGA delins 0.700 1.000 10 2002 2013
Colorectal cancer, hereditary nonpolyposis, type 1
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
179 0.925 0.160 2 47471007 frameshift variant GA/-;GAGA delins 0.700 1.000 2 2002 2005
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.925 0.160 2 47471007 frameshift variant GA/-;GAGA delins 0.700 0