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rs367543051

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367543051(A;A)
Make rs367543051(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position229432075
GeneACTA1
is asnp
is mentioned by
dbSNPrs367543051
ebirs367543051
HLIrs367543051
Exacrs367543051
Varsomers367543051
Maprs367543051
PheGenIrs367543051
hapmaprs367543051
1000 genomesrs367543051
hgdprs367543051
ensemblrs367543051
gopubmedrs367543051
geneviewrs367543051
scholarrs367543051
googlers367543051
pharmgkbrs367543051
gwascentralrs367543051
openSNPrs367543051
23andMers367543051
23andMe allrs367543051
SNP Nexus

SNPshotrs367543051
SNPdbers367543051
MSV3drs367543051
GWAS Ctlgrs367543051
Max Magnitude0
ClinVar
Risk rs367543051(A;A)
Alt rs367543051(A;A)
Reference rs367543051(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.229567822C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034936.1,


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