TRNY, tRNA, 4579

N. diseases: 2; 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: rs118203891
rs118203891
1.000 MT 5874 non coding transcript exon variant T/C snv
EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC
0.700 0
dbSNP: rs118203892
rs118203892
1.000 0.240 MT 5885 non coding transcript exon variant T/- delins
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs118203893
rs118203893
1.000 0.240 MT 5877 non coding transcript exon variant C/T snv
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0