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rs199474658

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199474658(C;C)
Make rs199474658(C;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position3271
GeneDDX27
is asnp
is mentioned by
dbSNPrs199474658
ebirs199474658
HLIrs199474658
Exacrs199474658
Varsomers199474658
Maprs199474658
PheGenIrs199474658
hapmaprs199474658
1000 genomesrs199474658
hgdprs199474658
ensemblrs199474658
gopubmedrs199474658
geneviewrs199474658
scholarrs199474658
googlers199474658
pharmgkbrs199474658
gwascentralrs199474658
openSNPrs199474658
23andMers199474658
23andMe allrs199474658
SNP Nexus

SNPshotrs199474658
SNPdbers199474658
MSV3drs199474658
GWAS Ctlgrs199474658
Max Magnitude0
ClinVar
Risk rs199474658(C;C)
Alt rs199474658(C;C)
Reference rs199474658(T;T)
Significance Pathogenic
Disease Juvenile myopathy
Variation info
Gene
CLNDBN Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Reversed 0
HGVS NC_012920.1:m.3271T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010212.4,