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: rs63750206
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.720 0.947 2 1995 2014
dbSNP: rs63750206
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.010 < 0.001 1 2009 2009
dbSNP: rs63750206
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 1.000 1 2015 2015