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rs118192170

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 susceptibility to malignant hyperthermia
(T;T) 0 common in complete genomics


Make rs118192170(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position38584989
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192170
ebirs118192170
HLIrs118192170
Exacrs118192170
Varsomers118192170
Maprs118192170
PheGenIrs118192170
hapmaprs118192170
1000 genomesrs118192170
hgdprs118192170
ensemblrs118192170
gopubmedrs118192170
geneviewrs118192170
scholarrs118192170
googlers118192170
pharmgkbrs118192170
gwascentralrs118192170
openSNPrs118192170
23andMers118192170
23andMe allrs118192170
SNP Nexus

SNPshotrs118192170
SNPdbers118192170
MSV3drs118192170
GWAS Ctlgrs118192170
Max Magnitude3
OMIM180901
Desc
Variant0012
Relatedalso
ClinVar
Risk rs118192170(C;C)
Alt rs118192170(C;C)
Reference rs118192170(T;T)
Significance Other
Disease Central core disease Malignant hyperthermia not provided
Variation info
Gene RYR1
CLNDBN Central core disease Malignant hyperthermia, susceptibility to, 1 not provided
Reversed 0
HGVS NC_000019.9:g.39075629T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013843.24, RCV000013844.2, RCV000119552.1,



rs118192170, aka p.Ile4898Thr or p.I4898T, is a SNP in the RYR1 gene associated with both malignant hyperthermia and central core disease when heterozygous.


[PMID 10097181OA-icon.png] A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.


[PMID 11741831] Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.


[PMID 16621918] Central core disease is due to RYR1 mutations in more than 90% of patients.


[PMID 17081152] Malignant hyperthermia and central core disease causative mutations in Swedish patients.