rs200563280

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common
(C;T)	4	malignant hyperthermia

Make rs200563280(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38496466

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs200563280
dbSNP (classic)	rs200563280
ClinGen	rs200563280
ebi	rs200563280
HLI	rs200563280
Exac	rs200563280
Gnomad	rs200563280
Varsome	rs200563280
LitVar	rs200563280
Map	rs200563280
PheGenI	rs200563280
Biobank	rs200563280
1000 genomes	rs200563280
hgdp	rs200563280
ensembl	rs200563280
geneview	rs200563280
scholar	rs200563280
google	rs200563280
pharmgkb	rs200563280
gwascentral	rs200563280
openSNP	rs200563280
23andMe	rs200563280
SNPshot	rs200563280
SNPdbe	rs200563280
MSV3d	rs200563280
GWAS Ctlg	rs200563280

Max Magnitude

4

rs200563280, aka p.Arg2241X or p.R2241X, is a SNP in the RYR1 gene deemed highly pathogenic for malignant hyperthermia.[PMID 24195946]

ClinVar
Risk	rs200563280(G;G) rs200563280(T;T)
Alt	rs200563280(G;G) rs200563280(T;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	RCV000147436.2, RCV000148787.1, RCV000171129.5, RCV000178453.2, RCV000233721.1, RCV000263175.1,