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rs121918602

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918602(C;C)
Make rs121918602(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position237454396
GeneRYR2
is asnp
is mentioned by
dbSNPrs121918602
ebirs121918602
HLIrs121918602
Exacrs121918602
Varsomers121918602
Maprs121918602
PheGenIrs121918602
hapmaprs121918602
1000 genomesrs121918602
hgdprs121918602
ensemblrs121918602
gopubmedrs121918602
geneviewrs121918602
scholarrs121918602
googlers121918602
pharmgkbrs121918602
gwascentralrs121918602
openSNPrs121918602
23andMers121918602
23andMe allrs121918602
SNP Nexus

SNPshotrs121918602
SNPdbers121918602
MSV3drs121918602
GWAS Ctlgrs121918602
Max Magnitude0
OMIM180902
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918602(C;C)
Alt rs121918602(C;C)
Reference rs121918602(T;T)
Significance Pathogenic
Disease Arrhythmogenic right ventricular dysplasia Catecholaminergic polymorphic ventricular tachycardia Long QT syndrome
Variation info
Gene RYR2
CLNDBN Arrhythmogenic right ventricular dysplasia, familial, 2 Catecholaminergic polymorphic ventricular tachycardia Long QT syndrome
Reversed 0
HGVS NC_000001.10:g.237617696T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013825.17, RCV000151756.2, RCV000190229.1,