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rs281865492

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865492(A;A)
Make rs281865492(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position66529054
GeneTK2
is asnp
is mentioned by
dbSNPrs281865492
ebirs281865492
HLIrs281865492
Exacrs281865492
Varsomers281865492
Maprs281865492
PheGenIrs281865492
hapmaprs281865492
1000 genomesrs281865492
hgdprs281865492
ensemblrs281865492
gopubmedrs281865492
geneviewrs281865492
scholarrs281865492
googlers281865492
pharmgkbrs281865492
gwascentralrs281865492
openSNPrs281865492
23andMers281865492
23andMe allrs281865492
SNP Nexus

SNPshotrs281865492
SNPdbers281865492
MSV3drs281865492
GWAS Ctlgrs281865492
Max Magnitude0
ClinVar
Risk rs281865492(A;A)
Alt rs281865492(A;A)
Reference rs281865492(G;G)
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.66562957C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032248.1,