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rs281865494

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
Position66529027
GeneTK2
is asnp
is mentioned by
dbSNPrs281865494
dbSNP (old)rs281865494
ClinGenrs281865494
ebirs281865494
HLIrs281865494
Exacrs281865494
Gnomadrs281865494
Varsomers281865494
Maprs281865494
PheGenIrs281865494
Biobankrs281865494
1000 genomesrs281865494
hgdprs281865494
ensemblrs281865494
gopubmedrs281865494
geneviewrs281865494
scholarrs281865494
googlers281865494
pharmgkbrs281865494
gwascentralrs281865494
openSNPrs281865494
23andMers281865494
23andMe allrs281865494
SNP Nexus

SNPshotrs281865494
SNPdbers281865494
MSV3drs281865494
GWAS Ctlgrs281865494
Max Magnitude5
Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition
ClinVar
Risk Rs281865494(T;T)
Alt Rs281865494(T;T)
Reference Rs281865494(C;C)
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.66562930G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000032249.1, RCV000197645.2,