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rs281865501

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
Make rs281865501(-;-)
Make rs281865501(-;AAG)
ReferenceGRCh38 38.1/141
Chromosome16
Position66517148
GeneTK2
is asnp
is mentioned by
dbSNPrs281865501
ebirs281865501
HLIrs281865501
Exacrs281865501
Varsomers281865501
Maprs281865501
PheGenIrs281865501
hapmaprs281865501
1000 genomesrs281865501
hgdprs281865501
ensemblrs281865501
gopubmedrs281865501
geneviewrs281865501
scholarrs281865501
googlers281865501
pharmgkbrs281865501
gwascentralrs281865501
openSNPrs281865501
23andMers281865501
23andMe allrs281865501
SNP Nexus

SNPshotrs281865501
SNPdbers281865501
MSV3drs281865501
GWAS Ctlgrs281865501
Max Magnitude0
ClinVar
Risk rs281865501(;)
Alt rs281865501(;)
Reference rs281865501(AAG;AAG)
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.66551051_66551053delCTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032254.1,