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rs121434474

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434474(A;A)
Make rs121434474(A;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position12147
GeneSMARCE1P4
is asnp
is mentioned by
dbSNPrs121434474
ebirs121434474
HLIrs121434474
Exacrs121434474
Varsomers121434474
Maprs121434474
PheGenIrs121434474
hapmaprs121434474
1000 genomesrs121434474
hgdprs121434474
ensemblrs121434474
gopubmedrs121434474
geneviewrs121434474
scholarrs121434474
googlers121434474
pharmgkbrs121434474
gwascentralrs121434474
openSNPrs121434474
23andMers121434474
23andMe allrs121434474
SNP Nexus

SNPshotrs121434474
SNPdbers121434474
MSV3drs121434474
GWAS Ctlgrs121434474
Max Magnitude0
ClinVar
Risk rs121434474(A;A)
Alt rs121434474(A;A)
Reference rs121434474(G;G)
Significance Pathogenic
Disease MERRF/MELAS overlap syndrome
Variation info
Gene
CLNDBN MERRF/MELAS overlap syndrome
Reversed 0
HGVS NC_012920.1:m.12147G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010234.2,