rs63751194, MLH1

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 Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
67 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.800 1.000 16 2001 2017
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1268 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.710 1.000 24 1999 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.700 1.000 18 2002 2017
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.700 1.000 10 2001 2010
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
100 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2008 2012