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rs118192175

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 3 susceptibility to malignant hyperthermia
Make rs118192175(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38494564
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192175
ebirs118192175
HLIrs118192175
Exacrs118192175
Varsomers118192175
Maprs118192175
PheGenIrs118192175
hapmaprs118192175
1000 genomesrs118192175
hgdprs118192175
ensemblrs118192175
gopubmedrs118192175
geneviewrs118192175
scholarrs118192175
googlers118192175
pharmgkbrs118192175
gwascentralrs118192175
openSNPrs118192175
23andMers118192175
23andMe allrs118192175
SNP Nexus

SNPshotrs118192175
SNPdbers118192175
MSV3drs118192175
GWAS Ctlgrs118192175
Merged fromRs28933998
Max Magnitude3
OMIM180901
Desc
Variant0010
Relatedalso
ClinVar
Risk rs118192175(T;T)
Alt rs118192175(T;T)
Reference rs118192175(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.38985204C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013840.2, RCV000056223.1, RCV000119653.1,



rs118192175, aka p.Arg2163Cys or p.R2163C, 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 12124989] RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.