rs63751310, MLH1

N. diseases: 6
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.200 3 37048595 stop gained C/T snv 0.700 1.000 11 1996 2017
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.851 0.200 3 37048595 stop gained C/T snv 0.700 1.000 8 1996 2015
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.851 0.200 3 37048595 stop gained C/T snv 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.851 0.200 3 37048595 stop gained C/T snv 0.010 1.000 1 2010 2010
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.851 0.200 3 37048595 stop gained C/T snv 0.010 1.000 1 2010 2010
Multiple polyps
CUI: C0334108
Disease: Multiple polyps
32 0.851 0.200 3 37048595 stop gained C/T snv 0.010 1.000 1 2010 2010