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rs121909531

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Nemaline Myopathy 3 carrier
(T;T) 4 Nemaline Myopathy 3
ReferenceGRCh38 38.1/141
Chromosome1
Position229431633
GeneACTA1
is asnp
is mentioned by
dbSNPrs121909531
ebirs121909531
HLIrs121909531
Exacrs121909531
Varsomers121909531
Maprs121909531
PheGenIrs121909531
hapmaprs121909531
1000 genomesrs121909531
hgdprs121909531
ensemblrs121909531
gopubmedrs121909531
geneviewrs121909531
scholarrs121909531
googlers121909531
pharmgkbrs121909531
gwascentralrs121909531
openSNPrs121909531
23andMers121909531
23andMe allrs121909531
SNP Nexus

SNPshotrs121909531
SNPdbers121909531
MSV3drs121909531
GWAS Ctlgrs121909531
Max Magnitude4
OMIM102610
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121909531(T;T)
Alt rs121909531(T;T)
Reference rs121909531(C;C)
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.229567380G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019953.28,


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