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rs367543057

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543057(A;A)
Make rs367543057(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position38517651
GeneRYR1
is asnp
is mentioned by
dbSNPrs367543057
ebirs367543057
HLIrs367543057
Exacrs367543057
Varsomers367543057
Maprs367543057
PheGenIrs367543057
hapmaprs367543057
1000 genomesrs367543057
hgdprs367543057
ensemblrs367543057
gopubmedrs367543057
geneviewrs367543057
scholarrs367543057
googlers367543057
pharmgkbrs367543057
gwascentralrs367543057
openSNPrs367543057
23andMers367543057
23andMe allrs367543057
SNP Nexus

SNPshotrs367543057
SNPdbers367543057
MSV3drs367543057
GWAS Ctlgrs367543057
Max Magnitude0
ClinVar
Risk rs367543057(A;A)
Alt rs367543057(A;A)
Reference rs367543057(C;C)
Significance Pathogenic
Disease Congenital myopathy with fiber type disproportion not provided
Variation info
Gene RYR1
CLNDBN Congenital myopathy with fiber type disproportion not provided
Reversed 0
HGVS NC_000019.9:g.39008291C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034932.1, RCV000182610.1,


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