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: rs63749818
rs63749818
MLH1
0.925 0.160 3 37007002 stop gained C/A;G;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 2012 2012
dbSNP: rs63749818
rs63749818
MLH1
0.925 0.160 3 37007002 stop gained C/A;G;T snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.010 1.000 1 2012 2012