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rs138439950

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs138439950(C;C)
Make rs138439950(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position66541937
GeneTK2
is asnp
is mentioned by
dbSNPrs138439950
ebirs138439950
HLIrs138439950
Exacrs138439950
Varsomers138439950
Maprs138439950
PheGenIrs138439950
hapmaprs138439950
1000 genomesrs138439950
hgdprs138439950
ensemblrs138439950
gopubmedrs138439950
geneviewrs138439950
scholarrs138439950
googlers138439950
pharmgkbrs138439950
gwascentralrs138439950
openSNPrs138439950
23andMers138439950
23andMe allrs138439950
SNP Nexus

SNPshotrs138439950
SNPdbers138439950
MSV3drs138439950
GWAS Ctlgrs138439950
Max Magnitude0
ClinVar
Risk rs138439950(C;C)
Alt rs138439950(C;C)
Reference rs138439950(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.66575840T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032237.1,