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: rs63750193
rs63750193
MLH1
0.851 0.160 3 37040276 missense variant T/C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750193
rs63750193
MLH1
0.851 0.160 3 37040276 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 2005 2015
dbSNP: rs63750193
rs63750193
MLH1
0.851 0.160 3 37040276 missense variant T/C snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63750193
rs63750193
MLH1
0.851 0.160 3 37040276 missense variant T/C snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 1.000 1 2005 2005
dbSNP: rs63750193
rs63750193
MLH1
0.851 0.160 3 37040276 missense variant T/C snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.010 1.000 1 2005 2005
dbSNP: rs63750193
rs63750193
MLH1
0.851 0.160 3 37040276 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2005 2005