TRNW, tRNA, 4578

N. diseases: 188; N. variants: 7
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: rs199474672
rs199474672 		0.925 0.160 MT 5537 non coding transcript exon variant -/T ins
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 1997 2003
dbSNP: rs199474673
rs199474673 		1.000 0.200 MT 5521 non coding transcript exon variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 1998 1998
dbSNP: rs587776435
rs587776435 		1.000 0.120 MT 5523 non coding transcript exon variant T/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 1 2009 2009
dbSNP: rs199474671
rs199474671 		1.000 0.120 MT 5549 non coding transcript exon variant G/A snv
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199474672
rs199474672 		0.925 0.160 MT 5537 non coding transcript exon variant -/T ins
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199474673
rs199474673 		1.000 0.200 MT 5521 non coding transcript exon variant G/A snv
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199474674
rs199474674 		1.000 MT 5532 non coding transcript exon variant G/A snv
CUI: C4016629
Disease: NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL
NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL 		0.700 0
dbSNP: rs387906418
rs387906418 		1.000 MT 5545 non coding transcript exon variant C/T snv
CUI: C4016630
Disease: ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL
ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL 		0.700 0
dbSNP: rs387906736
rs387906736 		1.000 0.120 MT 5556 non coding transcript exon variant G/A snv
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0