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rs387906421

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906421(C;C)
Make rs387906421(C;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position14674
GeneTIFAB
is asnp
is mentioned by
dbSNPrs387906421
ebirs387906421
HLIrs387906421
Exacrs387906421
Varsomers387906421
Maprs387906421
PheGenIrs387906421
hapmaprs387906421
1000 genomesrs387906421
hgdprs387906421
ensemblrs387906421
gopubmedrs387906421
geneviewrs387906421
scholarrs387906421
googlers387906421
pharmgkbrs387906421
gwascentralrs387906421
openSNPrs387906421
23andMers387906421
23andMe allrs387906421
SNP Nexus

SNPshotrs387906421
SNPdbers387906421
MSV3drs387906421
GWAS Ctlgrs387906421
Max Magnitude0
ClinVar
Risk rs387906421(C,G;C,G)
Alt rs387906421(C,G;C,G)
Reference rs387906421(T;T)
Significance Pathogenic
Disease Mitochondrial myopathy not provided
Variation info
Gene
CLNDBN Mitochondrial myopathy, infantile, transient not provided
Reversed 0
HGVS NC_012920.1:m.14674T>C; NC_012920.1:m.14674T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010243.4, RCV000224954.1, RCV000022898.2,