TRNS2, tRNA, 4575

N. diseases: 152; N. variants: 2
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: rs118203888
rs118203888
0.925 0.200 MT 12258 non coding transcript exon variant C/A snv
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs118203888
rs118203888
0.925 0.200 MT 12258 non coding transcript exon variant C/A snv
CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS
0.700 0
dbSNP: rs118203889
rs118203889
1.000 MT 12207 non coding transcript exon variant G/A snv
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
MERRF/MELAS OVERLAP SYNDROME
0.700 0