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rs193922809

From SNPedia

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


Make rs193922809(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position38499975
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922809
ebirs193922809
HLIrs193922809
Exacrs193922809
Varsomers193922809
Maprs193922809
PheGenIrs193922809
hapmaprs193922809
1000 genomesrs193922809
hgdprs193922809
ensemblrs193922809
gopubmedrs193922809
geneviewrs193922809
scholarrs193922809
googlers193922809
pharmgkbrs193922809
gwascentralrs193922809
openSNPrs193922809
23andMers193922809
23andMe allrs193922809
SNP Nexus

SNPshotrs193922809
SNPdbers193922809
MSV3drs193922809
GWAS Ctlgrs193922809
Max Magnitude3
rs193922809, aka p.Ala2428Thr or p.A2428T, is a SNP in the RYR1 gene considered causative for malignant hyperthermia,
ClinVar
Risk rs193922809(A;A)
Alt rs193922809(A;A)
Reference rs193922809(G;G)
Significance Untested
Disease not provided
Variation info
Gene RYR1
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.38990615G>A
CLNSRC ClinVar
CLNACC RCV000119695.1,