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rs794727683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAGCCAAAGATGT;CAGCCAAAGATGT) 0 common in clinvar
Make rs794727683(-;-)
Make rs794727683(-;CAAAGATGTCAGC)
Make rs794727683(CAAAGATGTCAGC;CAAAGATGTCAGC)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position38500839
GeneRYR1
is asnp
is mentioned by
dbSNPrs794727683
dbSNP (old)rs794727683
ClinGenrs794727683
ebirs794727683
HLIrs794727683
Exacrs794727683
Gnomadrs794727683
Varsomers794727683
Maprs794727683
PheGenIrs794727683
Biobankrs794727683
1000 genomesrs794727683
hgdprs794727683
ensemblrs794727683
gopubmedrs794727683
geneviewrs794727683
scholarrs794727683
googlers794727683
pharmgkbrs794727683
gwascentralrs794727683
openSNPrs794727683
23andMers794727683
23andMe allrs794727683
SNP Nexus

SNPshotrs794727683
SNPdbers794727683
MSV3drs794727683
GWAS Ctlgrs794727683
Max Magnitude0
ClinVar
Risk rs794727683(-;-)
Alt rs794727683(-;-)
Reference Rs794727683(CAGCCAAAGATGT;CAGCCAAAGATGT)
Significance Pathogenic
Disease Malignant hyperthermia Central core disease
Variation info
Gene RYR1
CLNDBN Malignant hyperthermia, susceptibility to, 1 Central core disease
Reversed 0
HGVS NC_000019.9:g.38991479_38991491delCAAAGATGTCAGC
CLNSRC
CLNACC RCV000178616.1, RCV000178617.1,