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rs281865500

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGAA;AGAA) 0 common in clinvar
Make rs281865500(-;-)
Make rs281865500(-;AGAA)
ReferenceGRCh38 38.1/141
Chromosome16
Position66549002
GeneTK2
is asnp
is mentioned by
dbSNPrs281865500
ebirs281865500
HLIrs281865500
Exacrs281865500
Varsomers281865500
Maprs281865500
PheGenIrs281865500
hapmaprs281865500
1000 genomesrs281865500
hgdprs281865500
ensemblrs281865500
gopubmedrs281865500
geneviewrs281865500
scholarrs281865500
googlers281865500
pharmgkbrs281865500
gwascentralrs281865500
openSNPrs281865500
23andMers281865500
23andMe allrs281865500
SNP Nexus

SNPshotrs281865500
SNPdbers281865500
MSV3drs281865500
GWAS Ctlgrs281865500
Max Magnitude0
ClinVar
Risk rs281865500(;)
Alt rs281865500(;)
Reference rs281865500(AGAA;AGAA)
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.66582905_66582908delTTCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032232.1,