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rs118192162

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;C) 3 susceptibility to malignant hyperthermia
Make rs118192162(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position38455359
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192162
ebirs118192162
HLIrs118192162
Exacrs118192162
Varsomers118192162
Maprs118192162
PheGenIrs118192162
hapmaprs118192162
1000 genomesrs118192162
hgdprs118192162
ensemblrs118192162
gopubmedrs118192162
geneviewrs118192162
scholarrs118192162
googlers118192162
pharmgkbrs118192162
gwascentralrs118192162
openSNPrs118192162
23andMers118192162
23andMe allrs118192162
SNP Nexus

SNPshotrs118192162
SNPdbers118192162
MSV3drs118192162
GWAS Ctlgrs118192162
Max Magnitude3
OMIM180901
Desc
Variant0031
Relatedalso
ClinVar
Risk rs118192162(C,G;C,G)
Alt rs118192162(C,G;C,G)
Reference rs118192162(A;A)
Significance Other
Disease Malignant hyperthermia Central core disease not provided
Variation info
Gene RYR1
CLNDBN Malignant hyperthermia, susceptibility to, 1 Central core disease not provided
Reversed 0
HGVS NC_000019.9:g.38945999A>C; NC_000019.9:g.38945999A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013865.2, RCV000013866.17, RCV000119574.1, RCV000119575.1,



rs118192162, aka p.Tyr522Ser or p.Y522S, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.


[PMID 7829078] Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.


[PMID 19020143] A fulminant malignant hyperthermia episode in a patient with ryanodine receptor gene mutation p.Tyr522Ser.