rs63750217, MLH1

N. diseases: 10
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 0.807 0.240 3 37048955 missense variant G/A;C snv 0.800 1.000 30 1996 2013
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.807 0.240 3 37048955 missense variant G/A;C snv 0.720 1.000 15 1975 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.807 0.240 3 37048955 missense variant G/A;C snv 0.700 1.000 23 1996 2017
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.807 0.240 3 37048955 missense variant G/A;C snv 0.700 1.000 15 1996 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.807 0.240 3 37048955 missense variant G/A;C snv 0.700 1.000 11 1996 2008
Torre-Muir syndrome
CUI: C1321489
Disease: Torre-Muir syndrome
20 0.807 0.240 3 37048955 missense variant G/A;C snv 0.700 0
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.807 0.240 3 37048955 missense variant G/A;C snv 0.700 0
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
65 0.807 0.240 3 37048955 missense variant G/A;C snv 0.010 1.000 1 2017 2017
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.807 0.240 3 37048955 missense variant G/A;C snv 0.010 1.000 1 1996 1996
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.807 0.240 3 37048955 missense variant G/A;C snv 0.010 1.000 1 1996 1996