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rs281865486

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865486(C;T)
Make rs281865486(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position66549001
GeneTK2
is asnp
is mentioned by
dbSNPrs281865486
ebirs281865486
HLIrs281865486
Exacrs281865486
Varsomers281865486
Maprs281865486
PheGenIrs281865486
hapmaprs281865486
1000 genomesrs281865486
hgdprs281865486
ensemblrs281865486
gopubmedrs281865486
geneviewrs281865486
scholarrs281865486
googlers281865486
pharmgkbrs281865486
gwascentralrs281865486
openSNPrs281865486
23andMers281865486
23andMe allrs281865486
SNP Nexus

SNPshotrs281865486
SNPdbers281865486
MSV3drs281865486
GWAS Ctlgrs281865486
Max Magnitude0
ClinVar
Risk rs281865486(T;T)
Alt rs281865486(T;T)
Reference rs281865486(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.66582904G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032233.1,