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rs367543050

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367543050(C;C)
Make rs367543050(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position229432181
GeneACTA1
is asnp
is mentioned by
dbSNPrs367543050
ebirs367543050
HLIrs367543050
Exacrs367543050
Varsomers367543050
Maprs367543050
PheGenIrs367543050
hapmaprs367543050
1000 genomesrs367543050
hgdprs367543050
ensemblrs367543050
gopubmedrs367543050
geneviewrs367543050
scholarrs367543050
googlers367543050
pharmgkbrs367543050
gwascentralrs367543050
openSNPrs367543050
23andMers367543050
23andMe allrs367543050
SNP Nexus

SNPshotrs367543050
SNPdbers367543050
MSV3drs367543050
GWAS Ctlgrs367543050
Max Magnitude0
ClinVar
Risk rs367543050(C;C)
Alt rs367543050(C;C)
Reference rs367543050(G;G)
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.229567928C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000034935.1,


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