rs63751615, 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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06 0.700 1.000 11 1996 2017
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06 0.700 1.000 8 1996 2013
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1268 0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06 0.700 1.000 5 1996 2017
Hereditary Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
67 0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06 0.700 1.000 4 1996 2016
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
53 0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06 0.700 0