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rs193922842

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common
(C;G) 4 malignant hyperthermia
Make rs193922842(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38543821
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922842
ebirs193922842
HLIrs193922842
Exacrs193922842
Varsomers193922842
Maprs193922842
PheGenIrs193922842
hapmaprs193922842
1000 genomesrs193922842
hgdprs193922842
ensemblrs193922842
gopubmedrs193922842
geneviewrs193922842
scholarrs193922842
googlers193922842
pharmgkbrs193922842
gwascentralrs193922842
openSNPrs193922842
23andMers193922842
23andMe allrs193922842
SNP Nexus

SNPshotrs193922842
SNPdbers193922842
MSV3drs193922842
GWAS Ctlgrs193922842
Max Magnitude4
rs193922842, aka p.Asp3986Glu or p.D3986E, is a SNP in the RYR1 gene deemed highly pathogenic in terms of leading to malignant hyperthermia.[PMID 224195946]
ClinVar
Risk rs193922842(G;G)
Alt rs193922842(G;G)
Reference rs193922842(C;C)
Significance Pathogenic
Disease not provided Malignant hyperthermia
Variation info
Gene RYR1
CLNDBN not provided Malignant hyperthermia, susceptibility to, 1
Reversed 0
HGVS NC_000019.9:g.39034461C>G
CLNSRC ClinVar
CLNACC RCV000119446.1, RCV000210014.1,