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rs199474657

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199474657(A;G)
Make rs199474657(G;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position3243
GeneDDX27
is asnp
is mentioned by
dbSNPrs199474657
ebirs199474657
HLIrs199474657
Exacrs199474657
Varsomers199474657
Maprs199474657
PheGenIrs199474657
hapmaprs199474657
1000 genomesrs199474657
hgdprs199474657
ensemblrs199474657
gopubmedrs199474657
geneviewrs199474657
scholarrs199474657
googlers199474657
pharmgkbrs199474657
gwascentralrs199474657
openSNPrs199474657
23andMers199474657
23andMe allrs199474657
SNP Nexus

SNPshotrs199474657
SNPdbers199474657
MSV3drs199474657
GWAS Ctlgrs199474657
Max Magnitude0
ClinVar
Risk rs199474657(G;G)
Alt rs199474657(G;G)
Reference rs199474657(A;A)
Significance Pathogenic
Disease Juvenile myopathy Muscle stiffness Age-related macular degeneration 2 Cyclical vomiting syndrome Cytochrome-c oxidase deficiency 3-Methylglutaconic aciduria MERRF/MELAS overlap syndrome Diabetes-deafness syndrome maternally transmitted Leigh syndrome Myoclonus with epilepsy with ragged red fibers not provided
Variation info
Gene
CLNDBN Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Muscle stiffness, painful Age-related macular degeneration 2 Cyclical vomiting syndrome Cytochrome-c oxidase deficiency 3-Methylglutaconic aciduria MERRF/MELAS overlap syndrome Diabetes-deafness syndrome maternally transmitted Leigh syndrome Myoclonus with epilepsy with ragged red fibers not provided
Reversed 0
HGVS NC_012920.1:m.3243A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010206.4, RCV000010208.4, RCV000010209.6, RCV000010210.4, RCV000010211.4, RCV000022901.4, RCV000022902.4, RCV000032997.4, RCV000143997.2, RCV000192054.1, RCV000224855.1,