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rs118192176

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


Make rs118192176(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position38494579
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192176
ebirs118192176
HLIrs118192176
Exacrs118192176
Varsomers118192176
Maprs118192176
PheGenIrs118192176
hapmaprs118192176
1000 genomesrs118192176
hgdprs118192176
ensemblrs118192176
gopubmedrs118192176
geneviewrs118192176
scholarrs118192176
googlers118192176
pharmgkbrs118192176
gwascentralrs118192176
openSNPrs118192176
23andMers118192176
23andMe allrs118192176
SNP Nexus

SNPshotrs118192176
SNPdbers118192176
MSV3drs118192176
GWAS Ctlgrs118192176
Max Magnitude3
OMIM180901
Desc
Variant0013
Relatedalso
ClinVar
Risk rs118192176(A;A)
Alt rs118192176(A;A)
Reference rs118192176(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.38985219G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013845.2, RCV000119656.1,



rs118192176, aka p.Val2168Met or p.V2168M, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.


[PMID 9497245OA-icon.png] Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.


[PMID 12059893] Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.


[PMID 12434264] [Current aspects of the diagnosis of malignant hyperthermia].


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


[PMID 17710899] Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families.