rs587778966, MLH1

N. diseases: 3
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 Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.925 0.160 3 36996698 frameshift variant -/C delins 0.720 0.500 2 2006 2009
Colonic Neoplasms
CUI: C0009375
Disease: Colonic Neoplasms
45 0.925 0.160 3 36996698 frameshift variant -/C delins 0.010 1.000 1 2015 2015
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
65 0.925 0.160 3 36996698 frameshift variant -/C delins 0.010 1 2009 2009