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rs193922753

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common
(C;T) 3 susceptibility to malignant hyperthermia
(G;G) 0 common in clinvar
Make rs193922753(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38444212
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922753
ebirs193922753
HLIrs193922753
Exacrs193922753
Varsomers193922753
Maprs193922753
PheGenIrs193922753
hapmaprs193922753
1000 genomesrs193922753
hgdprs193922753
ensemblrs193922753
gopubmedrs193922753
geneviewrs193922753
scholarrs193922753
googlers193922753
pharmgkbrs193922753
gwascentralrs193922753
openSNPrs193922753
23andMers193922753
23andMe allrs193922753
SNP Nexus

SNPshotrs193922753
SNPdbers193922753
MSV3drs193922753
GWAS Ctlgrs193922753
Max Magnitude3
rs193922753, aka p.Arg163Leu or p.R163L, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.
ClinVar
Risk rs193922753(A,T;A,T)
Alt rs193922753(A,T;A,T)
Reference rs193922753(G;G)
Significance Untested
Disease not provided
Variation info
Gene RYR1
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.38934852G>T
CLNSRC ClinVar
CLNACC RCV000119626.1,