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rs193922826

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common
(C;T) 3 susceptibility to malignant hyperthermia
Make rs193922826(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38504319
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922826
ebirs193922826
HLIrs193922826
Exacrs193922826
Varsomers193922826
Maprs193922826
PheGenIrs193922826
hapmaprs193922826
1000 genomesrs193922826
hgdprs193922826
ensemblrs193922826
gopubmedrs193922826
geneviewrs193922826
scholarrs193922826
googlers193922826
pharmgkbrs193922826
gwascentralrs193922826
openSNPrs193922826
23andMers193922826
23andMe allrs193922826
SNP Nexus

SNPshotrs193922826
SNPdbers193922826
MSV3drs193922826
GWAS Ctlgrs193922826
Merged fromRs28934001
Max Magnitude3
ClinVar
Risk rs193922826(T;T)
Alt rs193922826(T;T)
Reference rs193922826(C;C)
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.38994959C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013857.2, RCV000119737.2,


[PMID 16163667] Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.


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