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rs193922772

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 susceptibility to malignant hyperthermia
Make rs193922772(G;T)
Make rs193922772(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38457546
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922772
ebirs193922772
HLIrs193922772
Exacrs193922772
Varsomers193922772
Maprs193922772
PheGenIrs193922772
hapmaprs193922772
1000 genomesrs193922772
hgdprs193922772
ensemblrs193922772
gopubmedrs193922772
geneviewrs193922772
scholarrs193922772
googlers193922772
pharmgkbrs193922772
gwascentralrs193922772
openSNPrs193922772
23andMers193922772
23andMe allrs193922772
SNP Nexus

SNPshotrs193922772
SNPdbers193922772
MSV3drs193922772
GWAS Ctlgrs193922772
Max Magnitude0
rs193922772, aka p.Arg614Leu or p.R614L, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.
ClinVar
Risk rs193922772(A,T;A,T)
Alt rs193922772(A,T;A,T)
Reference rs193922772(G;G)
Significance Pathogenic
Disease not provided Malignant hyperthermia Central core disease
Variation info
Gene RYR1
CLNDBN not provided Malignant hyperthermia, susceptibility to, 1 Central core disease
Reversed 0
HGVS NC_000019.9:g.38948186G>T
CLNSRC HGMD
CLNACC RCV000119587.3, RCV000175143.1, RCV000175144.1,