rs63751598, MLH1

N. diseases: 2
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 1.000 0.160 3 37017598 missense variant A/C;G snv 0.700 1.000 7 1997 2008
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 1.000 0.160 3 37017598 missense variant A/C;G snv 0.700 1.000 6 1997 2015