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rs281865487

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865487(C;T)
Make rs281865487(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position66541919
GeneTK2
is asnp
is mentioned by
dbSNPrs281865487
ebirs281865487
HLIrs281865487
Exacrs281865487
Varsomers281865487
Maprs281865487
PheGenIrs281865487
hapmaprs281865487
1000 genomesrs281865487
hgdprs281865487
ensemblrs281865487
gopubmedrs281865487
geneviewrs281865487
scholarrs281865487
googlers281865487
pharmgkbrs281865487
gwascentralrs281865487
openSNPrs281865487
23andMers281865487
23andMe allrs281865487
SNP Nexus

SNPshotrs281865487
SNPdbers281865487
MSV3drs281865487
GWAS Ctlgrs281865487
Max Magnitude0
ClinVar
Risk rs281865487(T;T)
Alt rs281865487(T;T)
Reference rs281865487(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.66575822G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032238.1,