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rs121918593

From SNPedia

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


Make rs121918593(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position38499993
GeneRYR1
is asnp
is mentioned by
dbSNPrs121918593
ebirs121918593
HLIrs121918593
Exacrs121918593
Varsomers121918593
Maprs121918593
PheGenIrs121918593
hapmaprs121918593
1000 genomesrs121918593
hgdprs121918593
ensemblrs121918593
gopubmedrs121918593
geneviewrs121918593
scholarrs121918593
googlers121918593
pharmgkbrs121918593
gwascentralrs121918593
openSNPrs121918593
23andMers121918593
23andMe allrs121918593
SNP Nexus

SNPshotrs121918593
SNPdbers121918593
MSV3drs121918593
GWAS Ctlgrs121918593
Max Magnitude3
OMIM180901
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918593(A;A)
Alt rs121918593(A;A)
Reference rs121918593(G;G)
Significance Other
Disease Malignant hyperthermia not provided
Variation info
Gene RYR1
CLNDBN Malignant hyperthermia, susceptibility to, 1 not provided
Reversed 0
HGVS NC_000019.9:g.38990633G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013837.2, RCV000119698.1,



rs121918593, aka p.Gly2434Arg or p.G2434R, is a SNP in the RYR1 gene leading to susceptibility to malignant hyperthermia when heterozygous.


[PMID 9030597] Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle.