Have questions? Visit https://www.reddit.com/r/SNPedia

rs367543049

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367543049(A;A)
Make rs367543049(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position229432867
GeneACTA1
is asnp
is mentioned by
dbSNPrs367543049
ebirs367543049
HLIrs367543049
Exacrs367543049
Varsomers367543049
Maprs367543049
PheGenIrs367543049
hapmaprs367543049
1000 genomesrs367543049
hgdprs367543049
ensemblrs367543049
gopubmedrs367543049
geneviewrs367543049
scholarrs367543049
googlers367543049
pharmgkbrs367543049
gwascentralrs367543049
openSNPrs367543049
23andMers367543049
23andMe allrs367543049
SNP Nexus

SNPshotrs367543049
SNPdbers367543049
MSV3drs367543049
GWAS Ctlgrs367543049
Max Magnitude0
ClinVar
Risk rs367543049(A;A)
Alt rs367543049(A;A)
Reference rs367543049(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.229568614C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034933.1,


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