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rs193922770

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common
(C;T) 3 susceptibility to malignant hyperthermia
Make rs193922770(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38455528
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922770
ebirs193922770
HLIrs193922770
Exacrs193922770
Varsomers193922770
Maprs193922770
PheGenIrs193922770
hapmaprs193922770
1000 genomesrs193922770
hgdprs193922770
ensemblrs193922770
gopubmedrs193922770
geneviewrs193922770
scholarrs193922770
googlers193922770
pharmgkbrs193922770
gwascentralrs193922770
openSNPrs193922770
23andMers193922770
23andMe allrs193922770
SNP Nexus

SNPshotrs193922770
SNPdbers193922770
MSV3drs193922770
GWAS Ctlgrs193922770
Max Magnitude3
rs193922770, aka p.Arg552Trp or p.R552W, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.
ClinVar
Risk rs193922770(T;T)
Alt rs193922770(T;T)
Reference rs193922770(C;C)
Significance Untested
Disease not provided
Variation info
Gene RYR1
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.38946168C>T
CLNSRC ClinVar
CLNACC RCV000119581.1,