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

rs367543058

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs367543058(G;G)
Make rs367543058(G;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38519399
GeneRYR1
is asnp
is mentioned by
dbSNPrs367543058
ebirs367543058
HLIrs367543058
Exacrs367543058
Varsomers367543058
Maprs367543058
PheGenIrs367543058
hapmaprs367543058
1000 genomesrs367543058
hgdprs367543058
ensemblrs367543058
gopubmedrs367543058
geneviewrs367543058
scholarrs367543058
googlers367543058
pharmgkbrs367543058
gwascentralrs367543058
openSNPrs367543058
23andMers367543058
23andMe allrs367543058
SNP Nexus

SNPshotrs367543058
SNPdbers367543058
MSV3drs367543058
GWAS Ctlgrs367543058
Max Magnitude0
ClinVar
Risk rs367543058(G;G)
Alt rs367543058(G;G)
Reference rs367543058(T;T)
Significance Pathogenic
Disease Congenital myopathy with fiber type disproportion not provided Central core disease
Variation info
Gene RYR1
CLNDBN Congenital myopathy with fiber type disproportion not provided Central core disease
Reversed 0
HGVS NC_000019.9:g.39010039T>G
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000034925.1, RCV000147397.1, RCV000233916.1,


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