MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Lynch Syndrome ×
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: rs35502531
rs35502531 		0.827 0.160 3 37047639 missense variant AA/GC mnv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.020 0.500 2 2011 2012
dbSNP: rs1060504000
rs1060504000 		0.925 0.160 3 37025666 missense variant T/C snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1260021106
rs1260021106 		0.925 0.160 3 37025645 missense variant A/G snv 1.6E-05
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1392665848
rs1392665848 		0.925 0.160 3 37025865 missense variant A/G snv 4.0E-06
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1799977
rs1799977 		0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs267607713
rs267607713 		0.882 0.160 3 36996623 splice acceptor variant G/C snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs376642306
rs376642306 		0.925 0.160 3 37028819 missense variant T/C snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs587778914
rs587778914 		0.925 0.160 3 36996645 missense variant A/C snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs587778937
rs587778937 		0.882 0.160 3 37040291 missense variant T/C;G snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs587778966
rs587778966 		0.925 0.160 3 36996698 frameshift variant -/C delins
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs63749818
rs63749818 		0.925 0.160 3 37007002 stop gained C/A;G;T snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs63749939
rs63749939 		0.851 0.160 3 36996702 missense variant G/A snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs63750193
rs63750193 		0.851 0.160 3 37040276 missense variant T/C snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs63750206
rs63750206 		0.807 0.200 3 36996701 missense variant G/A;C;T snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs63750211
rs63750211 		0.882 0.160 3 37008904 missense variant A/G snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs63750217
rs63750217 		0.807 0.240 3 37048955 missense variant G/A;C snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs63750575
rs63750575 		0.851 0.160 3 37047550 missense variant T/C snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs63750656
rs63750656 		0.882 0.160 3 36993632 missense variant G/T snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs63750693
rs63750693 		0.882 0.160 3 37047652 missense variant T/A;C snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs63750791
rs63750791 		0.925 0.160 3 37025864 synonymous variant C/T snv 1.8E-04 2.1E-05
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs63751194
rs63751194 		0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs63751202
rs63751202 		0.851 0.160 3 37048578 missense variant T/C;G snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs786201226
rs786201226 		0.925 0.160 3 37014450 synonymous variant A/G;T snv 4.0E-06
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs864622258
rs864622258 		0.925 0.160 3 37050610 missense variant T/G snv 1.4E-05
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006