Have questions? Visit https://www.reddit.com/r/SNPedia

rs118192163

From SNPedia

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


Make rs118192163(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position38494565
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192163
ebirs118192163
HLIrs118192163
Exacrs118192163
Varsomers118192163
Maprs118192163
PheGenIrs118192163
hapmaprs118192163
1000 genomesrs118192163
hgdprs118192163
ensemblrs118192163
gopubmedrs118192163
geneviewrs118192163
scholarrs118192163
googlers118192163
pharmgkbrs118192163
gwascentralrs118192163
openSNPrs118192163
23andMers118192163
23andMe allrs118192163
SNP Nexus

SNPshotrs118192163
SNPdbers118192163
MSV3drs118192163
GWAS Ctlgrs118192163
Merged fromRs28933999
Max Magnitude3
OMIM180901
Desc
Variant0011
Relatedalso
ClinVar
Risk rs118192163(A,C;A,C)
Alt rs118192163(A,C;A,C)
Reference rs118192163(G;G)
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.38985205G>A; NC_000019.9:g.38985205G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013841.2, RCV000013842.24, RCV000119654.1, RCV000119655.1,



rs118192163, aka p.Arg2163His or p.R2163H, 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 16732084] Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.


[PMID 16835904] Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.


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


[PMID 12709367] Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.