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rs794728777

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728777(A;A)
Make rs794728777(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position237778726
GeneRYR2
is asnp
is mentioned by
dbSNPrs794728777
dbSNP (classic)rs794728777
ClinGenrs794728777
ebirs794728777
HLIrs794728777
Exacrs794728777
Gnomadrs794728777
Varsomers794728777
LitVarrs794728777
Maprs794728777
PheGenIrs794728777
Biobankrs794728777
1000 genomesrs794728777
hgdprs794728777
ensemblrs794728777
geneviewrs794728777
scholarrs794728777
googlers794728777
pharmgkbrs794728777
gwascentralrs794728777
openSNPrs794728777
23andMers794728777
SNPshotrs794728777
SNPdbers794728777
MSV3drs794728777
GWAS Ctlgrs794728777
Max Magnitude0
ClinVar
Risk rs794728777(A;A)
Alt rs794728777(A;A)
Reference Rs794728777(G;G)
Significance Pathogenic
Disease not provided Catecholaminergic polymorphic ventricular tachycardia
Variation info
Gene RYR2
CLNDBN not provided Catecholaminergic polymorphic ventricular tachycardia
Reversed 0
HGVS NC_000001.10:g.237942026G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000182800.1, RCV000460954.1,