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rs281865504

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865504(-;-)
Make rs281865504(-;A)
Make rs281865504(A;A)
ReferenceGRCh38 38.1/141
Chromosome16
Position66548983
GeneTK2
is asnp
is mentioned by
dbSNPrs281865504
ebirs281865504
HLIrs281865504
Exacrs281865504
Varsomers281865504
Maprs281865504
PheGenIrs281865504
hapmaprs281865504
1000 genomesrs281865504
hgdprs281865504
ensemblrs281865504
gopubmedrs281865504
geneviewrs281865504
scholarrs281865504
googlers281865504
pharmgkbrs281865504
gwascentralrs281865504
openSNPrs281865504
23andMers281865504
23andMe allrs281865504
SNP Nexus

SNPshotrs281865504
SNPdbers281865504
MSV3drs281865504
GWAS Ctlgrs281865504
Max Magnitude0
ClinVar
Risk rs281865504(A;A)
Alt rs281865504(A;A)
Reference rs281865504(;)
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.66582887dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032235.1,