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rs16835237

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs16835237(C;C)
Make rs16835237(C;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position237423084
GeneRYR2
is asnp
is mentioned by
dbSNPrs16835237
dbSNP (classic)rs16835237
ClinGenrs16835237
ebirs16835237
HLIrs16835237
Exacrs16835237
Gnomadrs16835237
Varsomers16835237
LitVarrs16835237
Maprs16835237
PheGenIrs16835237
Biobankrs16835237
1000 genomesrs16835237
hgdprs16835237
ensemblrs16835237
geneviewrs16835237
scholarrs16835237
googlers16835237
pharmgkbrs16835237
gwascentralrs16835237
openSNPrs16835237
23andMers16835237
SNPshotrs16835237
SNPdbers16835237
MSV3drs16835237
GWAS Ctlgrs16835237
Max Magnitude0
? (C;C) (C;T) (T;T) 28


[PMID 24978818OA-icon.png] RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort.


ClinVar
Risk rs16835237(C;C)
Alt rs16835237(C;C)
Reference Rs16835237(T;T)
Significance Probable-non-pathogenic
Disease not specified Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy
Variation info
Gene RYR2
CLNDBN not specified Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy, ARVC
Reversed 0
HGVS NC_000001.10:g.237586384T>C
CLNSRC ClinVar
CLNACC RCV000036800.7, RCV000295186.1, RCV000387143.1,