MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Hereditary Non-Polyposis Colon Cancer Type 2 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63750206
rs63750206 		0.807 0.200 3 36996701 missense variant G/A;C;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 40 1996 2017
dbSNP: rs63750217
rs63750217 		0.807 0.240 3 37048955 missense variant G/A;C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 30 1996 2013
dbSNP: rs63749795
rs63749795 		0.807 0.240 3 37028833 stop gained C/T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs35502531
rs35502531 		0.827 0.160 3 37047639 missense variant AA/GC mnv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs63751194
rs63751194 		0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 31 2001 2017
dbSNP: rs63750610
rs63750610 		0.851 0.240 3 37048563 missense variant C/G;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 29 1996 2014
dbSNP: rs587779021
rs587779021 		0.851 0.200 3 37008905 missense variant G/A;C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63750193
rs63750193 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63750575
rs63750575 		0.851 0.160 3 37047550 missense variant T/C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63750781
rs63750781 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 15 2001 2017
dbSNP: rs63750899
rs63750899 		0.851 0.200 3 37048562 missense variant C/G;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 15 2001 2017
dbSNP: rs63751275
rs63751275 		0.851 0.240 3 37048973 missense variant C/A;G;T snv 1.2E-05; 2.0E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 12 2001 2015
dbSNP: rs63751615
rs63751615 		0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 1996 2016
dbSNP: rs267607871
rs267607871 		0.851 0.240 3 37048515 splice acceptor variant A/G snv 4.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2004 2017
dbSNP: rs267607720
rs267607720 		0.851 0.240 3 37000952 splice region variant C/G;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs267607735
rs267607735 		0.851 0.240 3 37001058 splice region variant G/A snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs267607768
rs267607768 		0.851 0.240 3 37011867 splice region variant G/A;C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs63749939
rs63749939 		0.851 0.160 3 36996702 missense variant G/A snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs63750540
rs63750540 		0.851 0.240 3 37025979 stop gained A/T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs63751012
rs63751012 		0.851 0.200 3 36993656 stop gained G/A;C;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs63750656
rs63750656 		0.882 0.160 3 36993632 missense variant G/T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 35 1996 2017
dbSNP: rs63750693
rs63750693 		0.882 0.160 3 37047652 missense variant T/A;C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 35 1996 2017
dbSNP: rs267607706
rs267607706 		0.882 0.160 3 36993661 missense variant C/A;G;T snv 4.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs587778964
rs587778964 		0.882 0.160 3 37048604 missense variant A/C;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63750211
rs63750211 		0.882 0.160 3 37008904 missense variant A/G snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012