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rs137854432

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854432(C;G)
Make rs137854432(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position66541951
GeneTK2
is asnp
is mentioned by
dbSNPrs137854432
ebirs137854432
HLIrs137854432
Exacrs137854432
Varsomers137854432
Maprs137854432
PheGenIrs137854432
hapmaprs137854432
1000 genomesrs137854432
hgdprs137854432
ensemblrs137854432
gopubmedrs137854432
geneviewrs137854432
scholarrs137854432
googlers137854432
pharmgkbrs137854432
gwascentralrs137854432
openSNPrs137854432
23andMers137854432
23andMe allrs137854432
SNP Nexus

SNPshotrs137854432
SNPdbers137854432
MSV3drs137854432
GWAS Ctlgrs137854432
Max Magnitude0
OMIM188250
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137854432(G;G)
Alt rs137854432(G;G)
Reference rs137854432(C;C)
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.66575854G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013548.19,