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rs367543048

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367543048(A;A)
Make rs367543048(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position229433100
GeneACTA1
is asnp
is mentioned by
dbSNPrs367543048
ebirs367543048
HLIrs367543048
Exacrs367543048
Varsomers367543048
Maprs367543048
PheGenIrs367543048
hapmaprs367543048
1000 genomesrs367543048
hgdprs367543048
ensemblrs367543048
gopubmedrs367543048
geneviewrs367543048
scholarrs367543048
googlers367543048
pharmgkbrs367543048
gwascentralrs367543048
openSNPrs367543048
23andMers367543048
23andMe allrs367543048
SNP Nexus

SNPshotrs367543048
SNPdbers367543048
MSV3drs367543048
GWAS Ctlgrs367543048
Max Magnitude0
ClinVar
Risk rs367543048(A,T;A,T)
Alt rs367543048(A,T;A,T)
Reference rs367543048(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.229568847C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034934.1,


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