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rs794727984

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727984(G;T)
Make rs794727984(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position38564958
GeneRYR1
is asnp
is mentioned by
dbSNPrs794727984
ebirs794727984
HLIrs794727984
Exacrs794727984
Varsomers794727984
Maprs794727984
PheGenIrs794727984
hapmaprs794727984
1000 genomesrs794727984
hgdprs794727984
ensemblrs794727984
gopubmedrs794727984
geneviewrs794727984
scholarrs794727984
googlers794727984
pharmgkbrs794727984
gwascentralrs794727984
openSNPrs794727984
23andMers794727984
23andMe allrs794727984
SNP Nexus

SNPshotrs794727984
SNPdbers794727984
MSV3drs794727984
GWAS Ctlgrs794727984
Max Magnitude0
ClinVar
Risk rs794727984(T;T)
Alt rs794727984(T;T)
Reference rs794727984(G;G)
Significance Pathogenic
Disease Central core disease
Variation info
Gene RYR1
CLNDBN Central core disease
Reversed 0
HGVS NC_000019.9:g.39055598G>T
CLNSRC
CLNACC RCV000180734.1,