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rs193922807

From SNPedia

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


Make rs193922807(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position38499731
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922807
ebirs193922807
HLIrs193922807
Exacrs193922807
Varsomers193922807
Maprs193922807
PheGenIrs193922807
hapmaprs193922807
1000 genomesrs193922807
hgdprs193922807
ensemblrs193922807
gopubmedrs193922807
geneviewrs193922807
scholarrs193922807
googlers193922807
pharmgkbrs193922807
gwascentralrs193922807
openSNPrs193922807
23andMers193922807
23andMe allrs193922807
SNP Nexus

SNPshotrs193922807
SNPdbers193922807
MSV3drs193922807
GWAS Ctlgrs193922807
Max Magnitude3
rs193922807, aka p.Gly2375Ala or p.G2375A, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.
ClinVar
Risk rs193922807(C;C)
Alt rs193922807(C;C)
Reference rs193922807(G;G)
Significance Untested
Disease not provided
Variation info
Gene RYR1
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.38990371G>C
CLNSRC ClinVar
CLNACC RCV000119690.1,