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rs193922802

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 susceptibility to malignant hyperthermia
(G;G) 0 common


Make rs193922802(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position38499655
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922802
ebirs193922802
HLIrs193922802
Exacrs193922802
Varsomers193922802
Maprs193922802
PheGenIrs193922802
hapmaprs193922802
1000 genomesrs193922802
hgdprs193922802
ensemblrs193922802
gopubmedrs193922802
geneviewrs193922802
scholarrs193922802
googlers193922802
pharmgkbrs193922802
gwascentralrs193922802
openSNPrs193922802
23andMers193922802
23andMe allrs193922802
SNP Nexus

SNPshotrs193922802
SNPdbers193922802
MSV3drs193922802
GWAS Ctlgrs193922802
Max Magnitude3
rs193922802, aka p.Ala2350Thr or p.A2350T, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.
ClinVar
Risk rs193922802(A;A)
Alt rs193922802(A;A)
Reference rs193922802(G;G)
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.38990295G>A
CLNSRC ClinVar University of Washington
CLNACC RCV000119681.1, RCV000148806.1,