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rs281865506

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865506(-;-)
Make rs281865506(-;AT)
Make rs281865506(AT;AT)
ReferenceGRCh38 38.1/141
Chromosome16
Position66531418
GeneTK2
is asnp
is mentioned by
dbSNPrs281865506
ebirs281865506
HLIrs281865506
Exacrs281865506
Varsomers281865506
Maprs281865506
PheGenIrs281865506
hapmaprs281865506
1000 genomesrs281865506
hgdprs281865506
ensemblrs281865506
gopubmedrs281865506
geneviewrs281865506
scholarrs281865506
googlers281865506
pharmgkbrs281865506
gwascentralrs281865506
openSNPrs281865506
23andMers281865506
23andMe allrs281865506
SNP Nexus

SNPshotrs281865506
SNPdbers281865506
MSV3drs281865506
GWAS Ctlgrs281865506
Max Magnitude0
ClinVar
Risk rs281865506(AT;AT)
Alt rs281865506(AT;AT)
Reference rs281865506(;)
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.66565322_66565323dupAT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032244.1,