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rs281865499

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281865499(C;C)
Make rs281865499(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position66548976
GeneTK2
is asnp
is mentioned by
dbSNPrs281865499
ebirs281865499
HLIrs281865499
Exacrs281865499
Varsomers281865499
Maprs281865499
PheGenIrs281865499
hapmaprs281865499
1000 genomesrs281865499
hgdprs281865499
ensemblrs281865499
gopubmedrs281865499
geneviewrs281865499
scholarrs281865499
googlers281865499
pharmgkbrs281865499
gwascentralrs281865499
openSNPrs281865499
23andMers281865499
23andMe allrs281865499
SNP Nexus

SNPshotrs281865499
SNPdbers281865499
MSV3drs281865499
GWAS Ctlgrs281865499
Max Magnitude0
ClinVar
Risk rs281865499(C;C)
Alt rs281865499(C;C)
Reference rs281865499(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.66582879A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032236.1,