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rs193922878

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common
(C;G) 3 susceptibility to malignant hyperthermia
Make rs193922878(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38580370
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922878
ebirs193922878
HLIrs193922878
Exacrs193922878
Varsomers193922878
Maprs193922878
PheGenIrs193922878
hapmaprs193922878
1000 genomesrs193922878
hgdprs193922878
ensemblrs193922878
gopubmedrs193922878
geneviewrs193922878
scholarrs193922878
googlers193922878
pharmgkbrs193922878
gwascentralrs193922878
openSNPrs193922878
23andMers193922878
23andMe allrs193922878
SNP Nexus

SNPshotrs193922878
SNPdbers193922878
MSV3drs193922878
GWAS Ctlgrs193922878
Max Magnitude3
rs193922878, aka p.Leu4838Val or p.L4838V, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.
ClinVar
Risk rs193922878(G;G)
Alt rs193922878(G;G)
Reference rs193922878(C;C)
Significance Untested
Disease not provided
Variation info
Gene RYR1
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.39071010C>G
CLNSRC ClinVar
CLNACC RCV000119523.1,