Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587778966
rs587778966
MLH1
0.925 0.160 3 36996698 frameshift variant -/C delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.720 0.500 2 2006 2009
dbSNP: rs587778966
rs587778966
MLH1
0.925 0.160 3 36996698 frameshift variant -/C delins
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.010 < 0.001 1 2009 2009
dbSNP: rs587778966
rs587778966
MLH1
0.925 0.160 3 36996698 frameshift variant -/C delins
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 1.000 1 2015 2015