rs63750899, MLH1

N. diseases: 7
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 Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
154 0.851 0.200 3 37048562 missense variant C/G;T snv 0.800 1.000 15 2001 2017
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.851 0.200 3 37048562 missense variant C/G;T snv 0.710 1.000 1 2004 2004
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.200 3 37048562 missense variant C/G;T snv 0.700 1.000 15 1996 2015
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.851 0.200 3 37048562 missense variant C/G;T snv 0.700 0
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.851 0.200 3 37048562 missense variant C/G;T snv 0.010 1.000 1 2004 2004
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
827 0.851 0.200 3 37048562 missense variant C/G;T snv 0.010 1.000 1 2004 2004
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.851 0.200 3 37048562 missense variant C/G;T snv 0.010 1.000 1 2004 2004