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: rs63750575
rs63750575
MLH1
0.851 0.160 3 37047550 missense variant T/C snv
CUI: C4523846
Disease: MSI-high
MSI-high 		0.010 1.000 1 2013 2013
dbSNP: rs63750575
rs63750575
MLH1
0.851 0.160 3 37047550 missense variant T/C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs63750575
rs63750575
MLH1
0.851 0.160 3 37047550 missense variant T/C snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 1.000 1 2013 2013
dbSNP: rs63750575
rs63750575
MLH1
0.851 0.160 3 37047550 missense variant T/C snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.010 1.000 1 2013 2013