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rs137854429

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854429(A;A)
Make rs137854429(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position66531394
GeneTK2
is asnp
is mentioned by
dbSNPrs137854429
ebirs137854429
HLIrs137854429
Exacrs137854429
Varsomers137854429
Maprs137854429
PheGenIrs137854429
hapmaprs137854429
1000 genomesrs137854429
hgdprs137854429
ensemblrs137854429
gopubmedrs137854429
geneviewrs137854429
scholarrs137854429
googlers137854429
pharmgkbrs137854429
gwascentralrs137854429
openSNPrs137854429
23andMers137854429
23andMe allrs137854429
SNP Nexus

SNPshotrs137854429
SNPdbers137854429
MSV3drs137854429
GWAS Ctlgrs137854429
GMAF0.0004591
Max Magnitude0
OMIM188250
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137854429(A;A)
Alt rs137854429(A;A)
Reference rs137854429(C;C)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 2 not provided
Variation info
Gene TK2
CLNDBN Mitochondrial DNA depletion syndrome 2 not provided
Reversed 1
HGVS NC_000016.9:g.66565297G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013545.24, RCV000196185.1,