rs121918594

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	susceptibility to malignant hyperthermia
(G;G)	0	common

Make rs121918594(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38500655

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs121918594
dbSNP (classic)	rs121918594
ClinGen	rs121918594
ebi	rs121918594
HLI	rs121918594
Exac	rs121918594
Gnomad	rs121918594
Varsome	rs121918594
LitVar	rs121918594
Map	rs121918594
PheGenI	rs121918594
Biobank	rs121918594
1000 genomes	rs121918594
hgdp	rs121918594
ensembl	rs121918594
geneview	rs121918594
scholar	rs121918594
google	rs121918594
pharmgkb	rs121918594
gwascentral	rs121918594
openSNP	rs121918594
23andMe	rs121918594
SNPshot	rs121918594
SNPdbe	rs121918594
MSV3d	rs121918594
GWAS Ctlg	rs121918594

Max Magnitude

3

OMIM	180901
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121918594(A;A)
Alt	rs121918594(A;A)
Reference	Rs121918594(G;G)
Significance	Other
Disease	Malignant hyperthermia not provided Central core disease
Variation	info
Gene	RYR1
CLNDBN	Malignant hyperthermia, susceptibility to, 1 not provided Central core disease
Reversed	0
HGVS	NC_000019.9:g.38991295G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013839.3, RCV000079164.4, RCV000178592.1,

rs121918594, aka p.Arg2458His or p.R2458H, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.

23andMe name: i5000020

[PMID 16917943] Mutations in RYR1 in malignant hyperthermia and central core disease.