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rs281865495

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865495(A;G)
Make rs281865495(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position66517192
GeneTK2
is asnp
is mentioned by
dbSNPrs281865495
ebirs281865495
HLIrs281865495
Exacrs281865495
Varsomers281865495
Maprs281865495
PheGenIrs281865495
hapmaprs281865495
1000 genomesrs281865495
hgdprs281865495
ensemblrs281865495
gopubmedrs281865495
geneviewrs281865495
scholarrs281865495
googlers281865495
pharmgkbrs281865495
gwascentralrs281865495
openSNPrs281865495
23andMers281865495
23andMe allrs281865495
SNP Nexus

SNPshotrs281865495
SNPdbers281865495
MSV3drs281865495
GWAS Ctlgrs281865495
Max Magnitude0
ClinVar
Risk rs281865495(G;G)
Alt rs281865495(G;G)
Reference rs281865495(A;A)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 2 Progressive external ophthalmoplegia with mitochondrial DNA deletions
Variation info
Gene TK2
CLNDBN Mitochondrial DNA depletion syndrome 2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Reversed 1
HGVS NC_000016.9:g.66551095T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032252.4, RCV000239458.1,