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rs118192161

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 3 susceptibility to malignant hyperthermia
Make rs118192161(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38444211
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192161
ebirs118192161
HLIrs118192161
Exacrs118192161
Varsomers118192161
Maprs118192161
PheGenIrs118192161
hapmaprs118192161
1000 genomesrs118192161
hgdprs118192161
ensemblrs118192161
gopubmedrs118192161
geneviewrs118192161
scholarrs118192161
googlers118192161
pharmgkbrs118192161
gwascentralrs118192161
openSNPrs118192161
23andMers118192161
23andMe allrs118192161
SNP Nexus

SNPshotrs118192161
SNPdbers118192161
MSV3drs118192161
GWAS Ctlgrs118192161
Max Magnitude3
OMIM180901
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118192161(T;T)
Alt rs118192161(T;T)
Reference rs118192161(C;C)
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.38934851C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013833.3, RCV000013834.25, RCV000119625.1,



rs118192161, aka p.Arg163Cys or p.R163C, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.

[PMID 8220423] Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.

[PMID 21499247OA-icon.png] Exome sequencing identifies GRIN2A as frequently mutated in melanoma.

[PMID 8592342OA-icon.png] Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia.