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rs193922816

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common
(C;T) 3 susceptibility to malignant hyperthermia
Make rs193922816(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38500642
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922816
ebirs193922816
HLIrs193922816
Exacrs193922816
Varsomers193922816
Maprs193922816
PheGenIrs193922816
hapmaprs193922816
1000 genomesrs193922816
hgdprs193922816
ensemblrs193922816
gopubmedrs193922816
geneviewrs193922816
scholarrs193922816
googlers193922816
pharmgkbrs193922816
gwascentralrs193922816
openSNPrs193922816
23andMers193922816
23andMe allrs193922816
SNP Nexus

SNPshotrs193922816
SNPdbers193922816
MSV3drs193922816
GWAS Ctlgrs193922816
Max Magnitude3
rs193922816, aka p.Arg2454Cys or p.R2454C, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.
ClinVar
Risk rs193922816(T;T)
Alt rs193922816(T;T)
Reference rs193922816(C;C)
Significance Probable-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.38991282C>T
CLNSRC HGMD
CLNACC RCV000119709.1, RCV000153866.3, RCV000178593.1,