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rs193922781

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common
(C;T) 4 malignant hyperthermia
Make rs193922781(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38485838
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922781
ebirs193922781
HLIrs193922781
Exacrs193922781
Varsomers193922781
Maprs193922781
PheGenIrs193922781
hapmaprs193922781
1000 genomesrs193922781
hgdprs193922781
ensemblrs193922781
gopubmedrs193922781
geneviewrs193922781
scholarrs193922781
googlers193922781
pharmgkbrs193922781
gwascentralrs193922781
openSNPrs193922781
23andMers193922781
23andMe allrs193922781
SNP Nexus

SNPshotrs193922781
SNPdbers193922781
MSV3drs193922781
GWAS Ctlgrs193922781
Max Magnitude4
rs193922781, aka p.Ser1728Phe or p.S1728F, is a SNP in the RYR1 gene deemed highly pathogenic for malignant hyperthermia.[PMID 24195946OA-icon.png]
ClinVar
Risk rs193922781(T;T)
Alt rs193922781(T;T)
Reference rs193922781(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.38976478C>T
CLNSRC ClinVar University of Washington
CLNACC RCV000119633.1, RCV000148807.2,