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rs367543056

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs367543056(A;T)
Make rs367543056(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38490709
GeneRYR1
is asnp
is mentioned by
dbSNPrs367543056
ebirs367543056
HLIrs367543056
Exacrs367543056
Varsomers367543056
Maprs367543056
PheGenIrs367543056
hapmaprs367543056
1000 genomesrs367543056
hgdprs367543056
ensemblrs367543056
gopubmedrs367543056
geneviewrs367543056
scholarrs367543056
googlers367543056
pharmgkbrs367543056
gwascentralrs367543056
openSNPrs367543056
23andMers367543056
23andMe allrs367543056
SNP Nexus

SNPshotrs367543056
SNPdbers367543056
MSV3drs367543056
GWAS Ctlgrs367543056
Max Magnitude0
ClinVar
Risk rs367543056(T;T)
Alt rs367543056(T;T)
Reference rs367543056(A;A)
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.38981349A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034929.1,


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