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rs121434468

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434468(A;A)
Make rs121434468(A;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position4284
GeneADAM11
is asnp
is mentioned by
dbSNPrs121434468
ebirs121434468
HLIrs121434468
Exacrs121434468
Varsomers121434468
Maprs121434468
PheGenIrs121434468
hapmaprs121434468
1000 genomesrs121434468
hgdprs121434468
ensemblrs121434468
gopubmedrs121434468
geneviewrs121434468
scholarrs121434468
googlers121434468
pharmgkbrs121434468
gwascentralrs121434468
openSNPrs121434468
23andMers121434468
23andMe allrs121434468
SNP Nexus

SNPshotrs121434468
SNPdbers121434468
MSV3drs121434468
GWAS Ctlgrs121434468
Max Magnitude0
ClinVar
Risk rs121434468(A;A)
Alt rs121434468(A;A)
Reference rs121434468(G;G)
Significance Pathogenic
Disease Multisystem disorder Myoclonus with epilepsy with ragged red fibers
Variation info
Gene
CLNDBN Multisystem disorder Myoclonus with epilepsy with ragged red fibers
Reversed 0
HGVS NC_012920.1:m.4284G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010227.4, RCV000192056.1,