rs63750437, 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 Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.925 0.160 3 37000977 missense variant G/A;C snv 0.700 1.000 12 1997 2014
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1268 0.925 0.160 3 37000977 missense variant G/A;C snv 0.700 1.000 10 1997 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.925 0.160 3 37000977 missense variant G/A;C snv 0.700 1.000 8 1998 2016