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rs281865497

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281865497(C;C)
Make rs281865497(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position66513786
GeneTK2
is asnp
is mentioned by
dbSNPrs281865497
ebirs281865497
HLIrs281865497
Exacrs281865497
Varsomers281865497
Maprs281865497
PheGenIrs281865497
hapmaprs281865497
1000 genomesrs281865497
hgdprs281865497
ensemblrs281865497
gopubmedrs281865497
geneviewrs281865497
scholarrs281865497
googlers281865497
pharmgkbrs281865497
gwascentralrs281865497
openSNPrs281865497
23andMers281865497
23andMe allrs281865497
SNP Nexus

SNPshotrs281865497
SNPdbers281865497
MSV3drs281865497
GWAS Ctlgrs281865497
Max Magnitude0
ClinVar
Risk rs281865497(C;C)
Alt rs281865497(C;C)
Reference rs281865497(T;T)
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.66547689A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032255.1,