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rs111364670

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111364670(A;A)
Make rs111364670(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38510566
GeneRYR1
is asnp
is mentioned by
dbSNPrs111364670
ebirs111364670
HLIrs111364670
Exacrs111364670
Varsomers111364670
Maprs111364670
PheGenIrs111364670
hapmaprs111364670
1000 genomesrs111364670
hgdprs111364670
ensemblrs111364670
gopubmedrs111364670
geneviewrs111364670
scholarrs111364670
googlers111364670
pharmgkbrs111364670
gwascentralrs111364670
openSNPrs111364670
23andMers111364670
23andMe allrs111364670
SNP Nexus

SNPshotrs111364670
SNPdbers111364670
MSV3drs111364670
GWAS Ctlgrs111364670
Max Magnitude0
ClinVar
Risk rs111364670(A,T;A,T)
Alt rs111364670(A,T;A,T)
Reference rs111364670(G;G)
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.39001206G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034931.1,


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