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rs281865488

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865488(C;G)
Make rs281865488(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position66541912
GeneTK2
is asnp
is mentioned by
dbSNPrs281865488
ebirs281865488
HLIrs281865488
Exacrs281865488
Varsomers281865488
Maprs281865488
PheGenIrs281865488
hapmaprs281865488
1000 genomesrs281865488
hgdprs281865488
ensemblrs281865488
gopubmedrs281865488
geneviewrs281865488
scholarrs281865488
googlers281865488
pharmgkbrs281865488
gwascentralrs281865488
openSNPrs281865488
23andMers281865488
23andMe allrs281865488
SNP Nexus

SNPshotrs281865488
SNPdbers281865488
MSV3drs281865488
GWAS Ctlgrs281865488
Max Magnitude0
ClinVar
Risk rs281865488(G,T;G,T)
Alt rs281865488(G,T;G,T)
Reference rs281865488(C;C)
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.66575815G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032239.1,