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: rs63750899
rs63750899
MLH1
0.851 0.200 3 37048562 missense variant C/G;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 2004 2004
dbSNP: rs63750899
rs63750899
MLH1
0.851 0.200 3 37048562 missense variant C/G;T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.010 1.000 1 2004 2004
dbSNP: rs63750899
rs63750899
MLH1
0.851 0.200 3 37048562 missense variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2004 2004
dbSNP: rs63750899
rs63750899
MLH1
0.851 0.200 3 37048562 missense variant C/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2004 2004