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rs121918597

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918597(C;T)
Make rs121918597(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position237634937
GeneRYR2
is asnp
is mentioned by
dbSNPrs121918597
dbSNP (classic)rs121918597
ClinGenrs121918597
ebirs121918597
HLIrs121918597
Exacrs121918597
Gnomadrs121918597
Varsomers121918597
LitVarrs121918597
Maprs121918597
PheGenIrs121918597
Biobankrs121918597
1000 genomesrs121918597
hgdprs121918597
ensemblrs121918597
geneviewrs121918597
scholarrs121918597
googlers121918597
pharmgkbrs121918597
gwascentralrs121918597
openSNPrs121918597
23andMers121918597
SNPshotrs121918597
SNPdbers121918597
MSV3drs121918597
GWAS Ctlgrs121918597
Max Magnitude0
OMIM180902
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918597(T;T)
Alt rs121918597(T;T)
Reference Rs121918597(C;C)
Significance Pathogenic
Disease Ventricular tachycardia not provided Catecholaminergic polymorphic ventricular tachycardia
Variation info
Gene RYR2
CLNDBN Ventricular tachycardia, catecholaminergic polymorphic, 1 not provided Catecholaminergic polymorphic ventricular tachycardia
Reversed 0
HGVS NC_000001.10:g.237798237C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013820.17, RCV000182746.3, RCV000466223.1,