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rs200563280

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common
(C;T) 4 malignant hyperthermia
Make rs200563280(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38496466
GeneRYR1
is asnp
is mentioned by
dbSNPrs200563280
ebirs200563280
HLIrs200563280
Exacrs200563280
Varsomers200563280
Maprs200563280
PheGenIrs200563280
hapmaprs200563280
1000 genomesrs200563280
hgdprs200563280
ensemblrs200563280
gopubmedrs200563280
geneviewrs200563280
scholarrs200563280
googlers200563280
pharmgkbrs200563280
gwascentralrs200563280
openSNPrs200563280
23andMers200563280
23andMe allrs200563280
SNP Nexus

SNPshotrs200563280
SNPdbers200563280
MSV3drs200563280
GWAS Ctlgrs200563280
Max Magnitude4
rs200563280, aka p.Arg2241X or p.R2241X, is a SNP in the RYR1 gene deemed highly pathogenic for malignant hyperthermia.[PMID 24195946OA-icon.png]
ClinVar
Risk rs200563280(G,T;G,T)
Alt rs200563280(G,T;G,T)
Reference rs200563280(C;C)
Significance Pathogenic
Disease not provided Multi-minicore disease and atypical periodic paralysis Minicore myopathy with external ophthalmoplegia Malignant hyperthermia Central core disease
Variation info
Gene RYR1
CLNDBN not provided Multi-minicore disease and atypical periodic paralysis Minicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core disease
Reversed 0
HGVS NC_000019.9:g.38987106C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000147436.1, RCV000148787.1, RCV000171129.4, RCV000178453.2, RCV000233721.1,