rs63751247, MLH1

N. diseases: 5
Source: ALL
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
1331 0.882 0.200 3 37047632 inframe deletion AAG/- delins 0.700 1.000 16 1997 2018
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.882 0.200 3 37047632 inframe deletion AAG/- delins 0.700 1.000 8 1999 2013
Hereditary Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
154 0.882 0.200 3 37047632 inframe deletion AAG/- delins 0.700 1.000 5 2003 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 3 37047632 inframe deletion AAG/- delins 0.700 0
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.882 0.200 3 37047632 inframe deletion AAG/- delins 0.700 0