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rs121909530

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 4 Nemaline Myopathy 3
(C;T) 2 Nemaline Myopathy 3
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position229432134
GeneACTA1
is asnp
is mentioned by
dbSNPrs121909530
ebirs121909530
HLIrs121909530
Exacrs121909530
Varsomers121909530
Maprs121909530
PheGenIrs121909530
hapmaprs121909530
1000 genomesrs121909530
hgdprs121909530
ensemblrs121909530
gopubmedrs121909530
geneviewrs121909530
scholarrs121909530
googlers121909530
pharmgkbrs121909530
gwascentralrs121909530
openSNPrs121909530
23andMers121909530
23andMe allrs121909530
SNP Nexus

SNPshotrs121909530
SNPdbers121909530
MSV3drs121909530
GWAS Ctlgrs121909530
Max Magnitude4
OMIM102610
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121909530(C;C)
Alt rs121909530(C;C)
Reference rs121909530(T;T)
Significance Pathogenic
Disease Congenital myopathy with fiber type disproportion
Variation info
Gene ACTA1
CLNDBN Congenital myopathy with fiber type disproportion
Reversed 1
HGVS NC_000001.10:g.229567881A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019952.28,


[PMID 15468086] Actin mutations are one cause of congenital fibre type disproportion.