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rs387906418

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906418(C;T)
Make rs387906418(T;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position5545
GeneSMR3B
is asnp
is mentioned by
dbSNPrs387906418
ebirs387906418
HLIrs387906418
Exacrs387906418
Varsomers387906418
Maprs387906418
PheGenIrs387906418
hapmaprs387906418
1000 genomesrs387906418
hgdprs387906418
ensemblrs387906418
gopubmedrs387906418
geneviewrs387906418
scholarrs387906418
googlers387906418
pharmgkbrs387906418
gwascentralrs387906418
openSNPrs387906418
23andMers387906418
23andMe allrs387906418
SNP Nexus

SNPshotrs387906418
SNPdbers387906418
MSV3drs387906418
GWAS Ctlgrs387906418
Max Magnitude0
ClinVar
Risk rs387906418(T;T)
Alt rs387906418(T;T)
Reference rs387906418(C;C)
Significance Pathogenic
Disease Encephalocardiomyopathy
Variation info
Gene
CLNDBN Encephalocardiomyopathy, mitochondrial
Reversed 0
HGVS NC_012920.1:m.5545C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010168.2,