rs587779075, MSH2

N. diseases: 5
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 0.882 0.200 2 47429830 stop gained C/T snv 0.700 1.000 21 2001 2016
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.882 0.200 2 47429830 stop gained C/T snv 0.700 1.000 15 1997 2013
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.882 0.200 2 47429830 stop gained C/T snv 0.700 1.000 6 1999 2014
Colorectal cancer, hereditary nonpolyposis, type 1
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
179 0.882 0.200 2 47429830 stop gained C/T snv 0.700 1.000 1 2014 2014
Torre-Muir syndrome
CUI: C1321489
Disease: Torre-Muir syndrome
20 0.882 0.200 2 47429830 stop gained C/T snv 0.010 1.000 1 2019 2019