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rs281865502

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865502(-;-)
Make rs281865502(-;T)
Make rs281865502(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position66550053
GeneTK2
is asnp
is mentioned by
dbSNPrs281865502
ebirs281865502
HLIrs281865502
Exacrs281865502
Varsomers281865502
Maprs281865502
PheGenIrs281865502
hapmaprs281865502
1000 genomesrs281865502
hgdprs281865502
ensemblrs281865502
gopubmedrs281865502
geneviewrs281865502
scholarrs281865502
googlers281865502
pharmgkbrs281865502
gwascentralrs281865502
openSNPrs281865502
23andMers281865502
23andMe allrs281865502
SNP Nexus

SNPshotrs281865502
SNPdbers281865502
MSV3drs281865502
GWAS Ctlgrs281865502
Max Magnitude0
ClinVar
Risk rs281865502(T;T)
Alt rs281865502(T;T)
Reference rs281865502(;)
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.66583957dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000032257.1,