rs1553647894, MLH1

N. diseases: 4
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 Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.882 0.200 3 37020309 splice acceptor variant G/A;C snv 0.700 1.000 3 2000 2014
Hereditary Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
154 0.882 0.200 3 37020309 splice acceptor variant G/A;C snv 0.700 0
Torre-Muir syndrome
CUI: C1321489
Disease: Torre-Muir syndrome
20 0.882 0.200 3 37020309 splice acceptor variant G/A;C snv 0.700 0
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.882 0.200 3 37020309 splice acceptor variant G/A;C snv 0.700 0