Source: ALL

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: rs63750781
rs63750781
MLH1
0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 1.000 15 2001 2017
dbSNP: rs63750781
rs63750781
MLH1
0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 39 1996 2013
dbSNP: rs63750781
rs63750781
MLH1
0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 18 1995 2013
dbSNP: rs63750781
rs63750781
MLH1
0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 15 1995 2015
dbSNP: rs63750781
rs63750781
MLH1
0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63750781
rs63750781
MLH1
0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0