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rs794727460

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727460(-;-)
Make rs794727460(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position38473687
GeneRYR1
is asnp
is mentioned by
dbSNPrs794727460
dbSNP (classic)rs794727460
ClinGenrs794727460
ebirs794727460
HLIrs794727460
Exacrs794727460
Gnomadrs794727460
Varsomers794727460
LitVarrs794727460
Maprs794727460
PheGenIrs794727460
Biobankrs794727460
1000 genomesrs794727460
hgdprs794727460
ensemblrs794727460
geneviewrs794727460
scholarrs794727460
googlers794727460
pharmgkbrs794727460
gwascentralrs794727460
openSNPrs794727460
23andMers794727460
SNPshotrs794727460
SNPdbers794727460
MSV3drs794727460
GWAS Ctlgrs794727460
Max Magnitude0
ClinVar
Risk rs794727460(-;-)
Alt rs794727460(-;-)
Reference Rs794727460(G;G)
Significance Pathogenic
Disease Central core disease Malignant hyperthermia
Variation info
Gene RYR1
CLNDBN Central core disease Malignant hyperthermia, susceptibility to, 1
Reversed 0
HGVS NC_000019.9:g.38964327delG
CLNSRC
CLNACC RCV000176849.1, RCV000176850.1,