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rs367543055

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543055(A;A)
Make rs367543055(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position38485988
GeneRYR1
is asnp
is mentioned by
dbSNPrs367543055
ebirs367543055
HLIrs367543055
Exacrs367543055
Varsomers367543055
Maprs367543055
PheGenIrs367543055
hapmaprs367543055
1000 genomesrs367543055
hgdprs367543055
ensemblrs367543055
gopubmedrs367543055
geneviewrs367543055
scholarrs367543055
googlers367543055
pharmgkbrs367543055
gwascentralrs367543055
openSNPrs367543055
23andMers367543055
23andMe allrs367543055
SNP Nexus

SNPshotrs367543055
SNPdbers367543055
MSV3drs367543055
GWAS Ctlgrs367543055
Max Magnitude0
ClinVar
Risk rs367543055(A,T;A,T)
Alt rs367543055(A,T;A,T)
Reference rs367543055(C;C)
Significance Pathogenic
Disease Congenital myopathy with fiber type disproportion
Variation info
Gene RYR1
CLNDBN Congenital myopathy with fiber type disproportion
Reversed 0
HGVS NC_000019.9:g.38976628C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034928.1,


[PMID 20583297] Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.