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rs367543054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs367543054(G;G)
Make rs367543054(G;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38446706
GeneRYR1
is asnp
is mentioned by
dbSNPrs367543054
ebirs367543054
HLIrs367543054
Exacrs367543054
Varsomers367543054
Maprs367543054
PheGenIrs367543054
hapmaprs367543054
1000 genomesrs367543054
hgdprs367543054
ensemblrs367543054
gopubmedrs367543054
geneviewrs367543054
scholarrs367543054
googlers367543054
pharmgkbrs367543054
gwascentralrs367543054
openSNPrs367543054
23andMers367543054
23andMe allrs367543054
SNP Nexus

SNPshotrs367543054
SNPdbers367543054
MSV3drs367543054
GWAS Ctlgrs367543054
Max Magnitude0
ClinVar
Risk rs367543054(G;G)
Alt rs367543054(G;G)
Reference rs367543054(T;T)
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.38937346T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000034930.1,


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