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rs121918594

From SNPedia

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


Make rs121918594(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position38500655
GeneRYR1
is asnp
is mentioned by
dbSNPrs121918594
ebirs121918594
HLIrs121918594
Exacrs121918594
Varsomers121918594
Maprs121918594
PheGenIrs121918594
hapmaprs121918594
1000 genomesrs121918594
hgdprs121918594
ensemblrs121918594
gopubmedrs121918594
geneviewrs121918594
scholarrs121918594
googlers121918594
pharmgkbrs121918594
gwascentralrs121918594
openSNPrs121918594
23andMers121918594
23andMe allrs121918594
SNP Nexus

SNPshotrs121918594
SNPdbers121918594
MSV3drs121918594
GWAS Ctlgrs121918594
Max Magnitude3
OMIM180901
Desc
Variant0009
Relatedalso
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
CLNACC RCV000013839.2, 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.

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