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rs142291440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs142291440(C;C)
Make rs142291440(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position66536971
GeneTK2
is asnp
is mentioned by
dbSNPrs142291440
ebirs142291440
HLIrs142291440
Exacrs142291440
Varsomers142291440
Maprs142291440
PheGenIrs142291440
hapmaprs142291440
1000 genomesrs142291440
hgdprs142291440
ensemblrs142291440
gopubmedrs142291440
geneviewrs142291440
scholarrs142291440
googlers142291440
pharmgkbrs142291440
gwascentralrs142291440
openSNPrs142291440
23andMers142291440
23andMe allrs142291440
SNP Nexus

SNPshotrs142291440
SNPdbers142291440
MSV3drs142291440
GWAS Ctlgrs142291440
Max Magnitude0
ClinVar
Risk rs142291440(C;C)
Alt rs142291440(C;C)
Reference rs142291440(T;T)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 2
Variation info
Gene TK2
CLNDBN Mitochondrial DNA depletion syndrome 2
Reversed 0
HGVS NC_000016.9:g.66570874T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032242.1,