Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 susceptibility to malignant hyperthermia
(T;T) 0 common


Make rs193922747(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position38440802
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922747
ebirs193922747
HLIrs193922747
Exacrs193922747
Varsomers193922747
Maprs193922747
PheGenIrs193922747
hapmaprs193922747
1000 genomesrs193922747
hgdprs193922747
ensemblrs193922747
gopubmedrs193922747
geneviewrs193922747
scholarrs193922747
googlers193922747
pharmgkbrs193922747
gwascentralrs193922747
openSNPrs193922747
23andMers193922747
23andMe allrs193922747
SNP Nexus

SNPshotrs193922747
SNPdbers193922747
MSV3drs193922747
GWAS Ctlgrs193922747
Max Magnitude3
rs193922747, aka p.Cys35Arg or p.C35R, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.
ClinVar
Risk rs193922747(C;C)
Alt rs193922747(C;C)
Reference rs193922747(T;T)
Significance Untested
Disease not provided
Variation info
Gene RYR1
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.38931442T>C
CLNSRC ClinVar
CLNACC RCV000119411.1,