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rs281865493

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a mitochondrial depletion syndrome mutation
(T;T) 5 TK-2 related mitochondrial depletion syndrome (myopathic)
ReferenceGRCh38 38.1/141
Chromosome16
Position66529055
GeneTK2
is asnp
is mentioned by
dbSNPrs281865493
dbSNP (classic)rs281865493
ClinGenrs281865493
ebirs281865493
HLIrs281865493
Exacrs281865493
Gnomadrs281865493
Varsomers281865493
LitVarrs281865493
Maprs281865493
PheGenIrs281865493
Biobankrs281865493
1000 genomesrs281865493
hgdprs281865493
ensemblrs281865493
geneviewrs281865493
scholarrs281865493
googlers281865493
pharmgkbrs281865493
gwascentralrs281865493
openSNPrs281865493
23andMers281865493
SNPshotrs281865493
SNPdbers281865493
MSV3drs281865493
GWAS Ctlgrs281865493
Max Magnitude5

Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition

ClinVar
Risk Rs281865493(T;T)
Alt Rs281865493(T;T)
Reference Rs281865493(C;C)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 2
Variation info
Gene TK2
CLNDBN Mitochondrial DNA depletion syndrome 2
Reversed 1
HGVS NC_000016.9:g.66562958G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032247.1,