TRNF, tRNA, 4558

N. diseases: 148; N. variants: 6
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: rs118203885
rs118203885 		1.000 0.200 MT 583 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 3 1998 2009
dbSNP: rs387906734
rs387906734 		0.925 0.200 MT 586 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 2 2003 2008
dbSNP: rs118203886
rs118203886 		1.000 0.160 MT 611 non coding transcript exon variant G/A snv
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2004 2004
dbSNP: rs387906420
rs387906420 		0.925 0.200 MT 616 non coding transcript exon variant T/C;G 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 2010 2010
dbSNP: rs118203887
rs118203887 		1.000 MT 622 non coding transcript exon variant G/A snv
CUI: C4016623
Disease: MYOPATHY, MITOCHONDRIAL, LATE-ONSET
MYOPATHY, MITOCHONDRIAL, LATE-ONSET 		0.700 0
dbSNP: rs387906420
rs387906420 		0.925 0.200 MT 616 non coding transcript exon variant T/C;G snv
CUI: C4016624
Disease: EPILEPSY, MITOCHONDRIAL
EPILEPSY, MITOCHONDRIAL 		0.700 0
dbSNP: rs387906734
rs387906734 		0.925 0.200 MT 586 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: rs387906735
rs387906735 		1.000 0.080 MT 608 non coding transcript exon variant A/G snv
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0