TRNQ, tRNA, 4572

N. diseases: 137; N. variants: 3
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: rs199476140
rs199476140
MT 4365 non coding transcript exon variant -/A delins
CUI: C0026848
Disease: Myopathy
Myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199476141
rs199476141
1.000 0.200 MT 4332 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 0
dbSNP: rs41456348
rs41456348
1.000 MT 4336 non coding transcript exon variant T/C snv
CUI: C4016609
Disease: SENSORINEURAL DEAFNESS AND MIGRAINE
SENSORINEURAL DEAFNESS AND MIGRAINE
0.700 0