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rs794728708

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728708(A;A)
Make rs794728708(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position237377386
GeneRYR2
is asnp
is mentioned by
dbSNPrs794728708
dbSNP (classic)rs794728708
ClinGenrs794728708
ebirs794728708
HLIrs794728708
Exacrs794728708
Gnomadrs794728708
Varsomers794728708
LitVarrs794728708
Maprs794728708
PheGenIrs794728708
Biobankrs794728708
1000 genomesrs794728708
hgdprs794728708
ensemblrs794728708
geneviewrs794728708
scholarrs794728708
googlers794728708
pharmgkbrs794728708
gwascentralrs794728708
openSNPrs794728708
23andMers794728708
SNPshotrs794728708
SNPdbers794728708
MSV3drs794728708
GWAS Ctlgrs794728708
Max Magnitude0
ClinVar
Risk rs794728708(A;A) rs794728708(T;T)
Alt rs794728708(A;A) rs794728708(T;T)
Reference Rs794728708(G;G)
Significance Pathogenic
Disease not provided Ventricular tachycardia
Variation info
Gene RYR2
CLNDBN not provided Ventricular tachycardia, catecholaminergic polymorphic, 1
Reversed 0
HGVS NC_000001.10:g.237540686G>A; NC_000001.10:g.237540686G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000182659.3, RCV000208033.2, RCV000182660.4,