rs63750677, MLH1

N. diseases: 3
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 Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1268 0.925 0.160 3 37020435 frameshift variant C/-;CC delins 0.700 1.000 5 1997 2011
Hereditary Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
67 0.925 0.160 3 37020435 frameshift variant C/-;CC delins 0.700 1.000 3 1998 2011
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.925 0.160 3 37020435 frameshift variant C/-;CC delins 0.700 1.000 2 1998 2009