TRNS1, tRNA, 4574

N. diseases: 186; 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: rs387906419
rs387906419
0.925 0.200 MT 7497 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 4 1998 2010
dbSNP: rs111033319
rs111033319
0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins
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 1995 1995
dbSNP: rs199474817
rs199474817
0.882 0.200 MT 7512 non coding transcript exon variant T/C 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 1995 1995
dbSNP: rs199474821
rs199474821
0.925 0.280 MT 7511 non coding transcript exon variant T/C 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 1999 1999