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rs397516510

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516510(A;A)
Make rs397516510(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position237791480
GeneRYR2
is asnp
is mentioned by
dbSNPrs397516510
dbSNP (classic)rs397516510
ClinGenrs397516510
ebirs397516510
HLIrs397516510
Exacrs397516510
Gnomadrs397516510
Varsomers397516510
LitVarrs397516510
Maprs397516510
PheGenIrs397516510
Biobankrs397516510
1000 genomesrs397516510
hgdprs397516510
ensemblrs397516510
geneviewrs397516510
scholarrs397516510
googlers397516510
pharmgkbrs397516510
gwascentralrs397516510
openSNPrs397516510
23andMers397516510
SNPshotrs397516510
SNPdbers397516510
MSV3drs397516510
GWAS Ctlgrs397516510
Max Magnitude0
ClinVar
Risk rs397516510(A;A) rs397516510(T;T)
Alt rs397516510(A;A) rs397516510(T;T)
Reference Rs397516510(G;G)
Significance Pathogenic
Disease not specified Ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia not provided
Variation info
Gene RYR2
CLNDBN not specified Ventricular tachycardia, catecholaminergic polymorphic, 1 Catecholaminergic polymorphic ventricular tachycardia not provided
Reversed 0
HGVS NC_000001.10:g.237954780G>A; NC_000001.10:g.237954780G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000036678.3, RCV000208469.1, RCV000231726.1, RCV000182838.2,