rs193922376, 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.
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.925 0.160 2 47414421 splice region variant A/G;T snv 3.3E-05 0.700 1.000 9 1994 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.160 2 47414421 splice region variant A/G;T snv 3.3E-05 0.700 1.000 9 2000 2016
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.925 0.160 2 47414421 splice region variant A/G;T snv 3.3E-05 0.700 1.000 8 1996 2012
Colorectal cancer, hereditary nonpolyposis, type 1
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
179 0.925 0.160 2 47414421 splice region variant A/G;T snv 3.3E-05 0.700 1.000 7 2002 2013