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rs794727982

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727982(A;A)
Make rs794727982(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position38561442
GeneRYR1
is asnp
is mentioned by
dbSNPrs794727982
ebirs794727982
HLIrs794727982
Exacrs794727982
Varsomers794727982
Maprs794727982
PheGenIrs794727982
hapmaprs794727982
1000 genomesrs794727982
hgdprs794727982
ensemblrs794727982
gopubmedrs794727982
geneviewrs794727982
scholarrs794727982
googlers794727982
pharmgkbrs794727982
gwascentralrs794727982
openSNPrs794727982
23andMers794727982
23andMe allrs794727982
SNP Nexus

SNPshotrs794727982
SNPdbers794727982
MSV3drs794727982
GWAS Ctlgrs794727982
Max Magnitude0
ClinVar
Risk rs794727982(A;A)
Alt rs794727982(A;A)
Reference rs794727982(G;G)
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.39052082G>A
CLNSRC
CLNACC RCV000180724.1, RCV000180725.1,