rs63750086, MSH2

N. diseases: 5
Source: CLINVAR ×
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 Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.882 0.200 2 47429891 frameshift variant AG/- del 0.700 1.000 8 1996 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.882 0.200 2 47429891 frameshift variant AG/- del 0.700 1.000 8 1996 2015
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1268 0.882 0.200 2 47429891 frameshift variant AG/- del 0.700 1.000 5 1996 2007
Colorectal cancer, hereditary nonpolyposis, type 1
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
107 0.882 0.200 2 47429891 frameshift variant AG/- del 0.700 1.000 2 2005 2015
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
28 0.882 0.200 2 47429891 frameshift variant AG/- del 0.700 0