rs63750206, MLH1

N. diseases: 9
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.
Colonic Neoplasms
CUI: C0009375
Disease: Colonic Neoplasms
45 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.010 1.000 1 2015 2015
Hereditary Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
154 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.800 1.000 40 1996 2017
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.720 0.947 19 1995 2014
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.700 1.000 14 1995 2013
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
65 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.010 1 2009 2009
Malignant neoplasm of brain
CUI: C0153633
Disease: Malignant neoplasm of brain
16 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.700 0
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.700 1.000 9 1995 2016
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.700 0