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rs137854430

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137854430(A;A)
Make rs137854430(A;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position66513795
GeneTK2
is asnp
is mentioned by
dbSNPrs137854430
ebirs137854430
HLIrs137854430
Exacrs137854430
Varsomers137854430
Maprs137854430
PheGenIrs137854430
hapmaprs137854430
1000 genomesrs137854430
hgdprs137854430
ensemblrs137854430
gopubmedrs137854430
geneviewrs137854430
scholarrs137854430
googlers137854430
pharmgkbrs137854430
gwascentralrs137854430
openSNPrs137854430
23andMers137854430
23andMe allrs137854430
SNP Nexus

SNPshotrs137854430
SNPdbers137854430
MSV3drs137854430
GWAS Ctlgrs137854430
Max Magnitude0
OMIM188250
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137854430(A;A)
Alt rs137854430(A;A)
Reference rs137854430(T;T)
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.66547698A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013546.24,