rs63750193, 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.
Hereditary Non-Polyposis Colon Cancer Type 2
154 0.851 0.160 3 37040276 missense variant T/C snv 0.700 1.000 20 1996 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.160 3 37040276 missense variant T/C snv 0.700 1.000 10 2005 2015
Colorectal cancer, hereditary nonpolyposis, type 1
179 0.851 0.160 3 37040276 missense variant T/C snv 0.700 0
Hereditary Nonpolyposis Colorectal Cancer
1331 0.851 0.160 3 37040276 missense variant T/C snv 0.010 1.000 1 2005 2005
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
65 0.851 0.160 3 37040276 missense variant T/C snv 0.010 1.000 1 2005 2005
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.851 0.160 3 37040276 missense variant T/C snv 0.010 1.000 1 2005 2005