rs63751108, MSH2

N. diseases: 7
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 0.827 0.240 2 47429881 stop gained C/T snv 0.700 1.000 9 1993 2013
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.827 0.240 2 47429881 stop gained C/T snv 0.700 1.000 5 1993 2014
Colorectal cancer, hereditary nonpolyposis, type 1
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
179 0.827 0.240 2 47429881 stop gained C/T snv 0.700 1.000 2 2005 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.827 0.240 2 47429881 stop gained C/T snv 0.700 0
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.827 0.240 2 47429881 stop gained C/T snv 0.700 0
Torre-Muir syndrome
CUI: C1321489
Disease: Torre-Muir syndrome
20 0.827 0.240 2 47429881 stop gained C/T snv 0.700 0
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.827 0.240 2 47429881 stop gained C/T snv 0.700 0