Disease: Leigh Disease ×
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: rs199476138
rs199476138 		0.882 0.120 MT 9185 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 8 1993 2013
dbSNP: rs199476135
rs199476135 		0.882 0.120 MT 9176 missense variant T/C;G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 11 1993 2007
dbSNP: rs199476133
rs199476133 		0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 10 1990 2007
dbSNP: rs267606891
rs267606891 		0.882 0.200 MT 10197 missense variant G/A snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 2 2007 2009
dbSNP: rs267606890
rs267606890 		0.925 0.120 MT 10191 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 7 2001 2019
dbSNP: rs199476117
rs199476117 		0.925 0.120 MT 10158 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 2003 2005
dbSNP: rs199476136
rs199476136 		0.925 0.120 MT 8851 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 1995 2013
dbSNP: rs28384199
rs28384199 		0.882 0.160 MT 11777 missense variant C/A;G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2003 2004
dbSNP: rs1556423547
rs1556423547 		1.000 0.120 MT 8839 missense variant G/A;C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1556423632
rs1556423632 		1.000 0.120 MT 9191 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2005 2005
dbSNP: rs267606614
rs267606614 		0.925 0.120 MT 9531 frameshift variant -/C delins
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2000 2000
dbSNP: rs587776437
rs587776437 		1.000 0.120 MT 9478 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs587776438
rs587776438 		1.000 0.120 MT 10254 missense variant G/A snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs587776444
rs587776444 		1.000 0.120 MT 8989 missense variant G/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs587780529
rs587780529 		1.000 0.120 MT 10134 missense variant C/A snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs199476112
rs199476112 		0.925 0.160 MT 11778 missense variant G/A snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011