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: rs63749939
rs63749939
MLH1
0.851 0.160 3 36996702 missense variant G/A snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 < 0.001 1 2009 2009
dbSNP: rs63749939
rs63749939
MLH1
0.851 0.160 3 36996702 missense variant G/A snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.010 < 0.001 1 2009 2009