rs63749939, MLH1

N. diseases: 6
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 Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.851 0.160 3 36996702 missense variant G/A snv 0.710 1 2009 2009
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.851 0.160 3 36996702 missense variant G/A snv 0.700 1.000 5 2004 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.160 3 36996702 missense variant G/A snv 0.700 1.000 3 2008 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.851 0.160 3 36996702 missense variant G/A snv 0.700 0
Hereditary Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
154 0.851 0.160 3 36996702 missense variant G/A snv 0.700 0
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
65 0.851 0.160 3 36996702 missense variant G/A snv 0.010 1 2009 2009