rs267607845, 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 0.925 0.160 3 37042267 splice acceptor variant G/A;T snv 0.700 1.000 7 2003 2016
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.925 0.160 3 37042267 splice acceptor variant G/A;T snv 0.700 1.000 7 2003 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.160 3 37042267 splice acceptor variant G/A;T snv 0.700 1.000 6 2003 2012
Adenocarcinoma of large intestine
CUI: C1319315
Disease: Adenocarcinoma of large intestine
432 0.925 0.160 3 37042267 splice acceptor variant G/A;T snv 0.700 0
Sarcoma
CUI: C1261473
Disease: Sarcoma
42 0.925 0.160 3 37042267 splice acceptor variant G/A;T snv 0.700 0