MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
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
Hereditary Non-Polyposis Colon Cancer Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 40 1996 2017
dbSNP: rs63750693
rs63750693
0.882 0.160 3 37047652 missense variant T/A;C snv
Hereditary Non-Polyposis Colon Cancer Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 35 1996 2017
dbSNP: rs63750710
rs63750710
0.925 0.160 3 37020411 missense variant A/C snv
Hereditary Non-Polyposis Colon Cancer Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 35 1996 2017
dbSNP: rs63751194
rs63751194
0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06
Hereditary Non-Polyposis Colon Cancer Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 31 2001 2017
dbSNP: rs63750217
rs63750217
0.807 0.240 3 37048955 missense variant G/A;C snv
Hereditary Non-Polyposis Colon Cancer Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 30 1996 2013
dbSNP: rs63750610
rs63750610
0.851 0.240 3 37048563 missense variant C/G;T snv
Hereditary Non-Polyposis Colon Cancer Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 29 1996 2014
dbSNP: rs63751711
rs63751711
0.925 0.160 3 37012099 missense variant G/A;T snv
Hereditary Non-Polyposis Colon Cancer Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 19 2001 2017
dbSNP: rs63750781
rs63750781
0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06
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
Hereditary Non-Polyposis Colon Cancer Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 15 2001 2017
dbSNP: rs63751109
rs63751109
0.925 0.160 3 36996633 missense variant C/A;T snv
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
Hereditary Non-Polyposis Colon Cancer Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 12 2001 2015
dbSNP: rs121912965
rs121912965
0.882 0.200 3 36993651 missense variant TG/AC mnv
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.800 1.000 7 1995 2015
dbSNP: rs63750206
rs63750206
0.807 0.200 3 36996701 missense variant G/A;C;T snv
Hereditary Nonpolyposis Colorectal Cancer
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.720 0.947 19 1995 2014
dbSNP: rs63750217
rs63750217
0.807 0.240 3 37048955 missense variant G/A;C snv
Hereditary Nonpolyposis Colorectal Cancer
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.720 1.000 15 1975 2017
dbSNP: rs28930073
rs28930073
0.827 0.200 3 37007004 missense variant G/C snv 2.1E-04 1.9E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.720 1.000 12 1996 2008
dbSNP: rs587778966
rs587778966
0.925 0.160 3 36996698 frameshift variant -/C delins
Hereditary Nonpolyposis Colorectal Cancer
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.720 0.500 2 2006 2009
dbSNP: rs63750781
rs63750781
0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06
Hereditary Nonpolyposis Colorectal Cancer
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.710 1.000 39 1996 2013
dbSNP: rs63751194
rs63751194
0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06
Hereditary Nonpolyposis Colorectal Cancer
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.710 1.000 25 1999 2014
dbSNP: rs587778914
rs587778914
0.925 0.160 3 36996645 missense variant A/C snv
Hereditary Nonpolyposis Colorectal Cancer
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.710 1.000 1 2012 2012
dbSNP: rs587778937
rs587778937
0.882 0.160 3 37040291 missense variant T/C;G snv
Hereditary Nonpolyposis Colorectal Cancer
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.710 1.000 1 2013 2013
dbSNP: rs63749795
rs63749795
0.807 0.240 3 37028833 stop gained C/T snv
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2019 2019
dbSNP: rs63749818
rs63749818
0.925 0.160 3 37007002 stop gained C/A;G;T snv
Hereditary Nonpolyposis Colorectal Cancer
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.710 1.000 1 2012 2012
dbSNP: rs63749939
rs63749939
0.851 0.160 3 36996702 missense variant G/A snv
Hereditary Nonpolyposis Colorectal Cancer
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.710 < 0.001 1 2009 2009
dbSNP: rs63750211
rs63750211
0.882 0.160 3 37008904 missense variant A/G snv
Hereditary Nonpolyposis Colorectal Cancer
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.710 1.000 1 2012 2012
dbSNP: rs63750693
rs63750693
0.882 0.160 3 37047652 missense variant T/A;C snv
Hereditary Nonpolyposis Colorectal Cancer
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.710 1.000 1 2010 2010