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rs281865496

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 5 TK-2 related mitochondrial depletion syndrome (myopathic)
(A;G) 3 Carrier of a mitochondrial depletion syndrome mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position66517179
GeneTK2
is asnp
is mentioned by
dbSNPrs281865496
ClinGenrs281865496
ebirs281865496
HLIrs281865496
Exacrs281865496
Varsomers281865496
Maprs281865496
PheGenIrs281865496
hapmaprs281865496
1000 genomesrs281865496
hgdprs281865496
ensemblrs281865496
gopubmedrs281865496
geneviewrs281865496
scholarrs281865496
googlers281865496
pharmgkbrs281865496
gwascentralrs281865496
openSNPrs281865496
23andMers281865496
23andMe allrs281865496
SNP Nexus

SNPshotrs281865496
SNPdbers281865496
MSV3drs281865496
GWAS Ctlgrs281865496
Max Magnitude5
Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition
ClinVar
Risk Rs281865496(A;A)
Alt Rs281865496(A;A)
Reference Rs281865496(G;G)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 2 not provided
Variation info
Gene TK2
CLNDBN Mitochondrial DNA depletion syndrome 2 not provided
Reversed 1
HGVS NC_000016.9:g.66551082C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000032253.1, RCV000494549.1,