rs267607767, MLH1

N. diseases: 4
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 0.925 0.160 3 37012009 splice acceptor variant A/C;G snv 0.700 1.000 16 1995 2016
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1268 0.925 0.160 3 37012009 splice acceptor variant A/C;G snv 0.700 1.000 6 1995 2016
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.925 0.160 3 37012009 splice acceptor variant A/C;G snv 0.700 1.000 5 1995 2013
Hereditary Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
67 0.925 0.160 3 37012009 splice acceptor variant A/C;G snv 0.700 1.000 3 1995 2013