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: rs63750217
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.720 1.000 2 1975 2017
dbSNP: rs63750217
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs63750217
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 1996 1996
dbSNP: rs63750217
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 1996 1996