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rs121434453

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434453(C;C)
Make rs121434453(C;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position14709
GeneTIFAB
is asnp
is mentioned by
dbSNPrs121434453
ebirs121434453
HLIrs121434453
Exacrs121434453
Varsomers121434453
Maprs121434453
PheGenIrs121434453
hapmaprs121434453
1000 genomesrs121434453
hgdprs121434453
ensemblrs121434453
gopubmedrs121434453
geneviewrs121434453
scholarrs121434453
googlers121434453
pharmgkbrs121434453
gwascentralrs121434453
openSNPrs121434453
23andMers121434453
23andMe allrs121434453
SNP Nexus

SNPshotrs121434453
SNPdbers121434453
MSV3drs121434453
GWAS Ctlgrs121434453
Max Magnitude0
ClinVar
Risk rs121434453(C;C)
Alt rs121434453(C;C)
Reference rs121434453(T;T)
Significance Pathogenic
Disease Myopathy Diabetes-deafness syndrome maternally transmitted
Variation info
Gene
CLNDBN Myopathy, mitochondrial, with diabetes mellitus Diabetes-deafness syndrome maternally transmitted
Reversed 0
HGVS NC_012920.1:m.14709T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010241.2, RCV000032996.4,