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rs2253273

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs2253273(C;C)
Make rs2253273(C;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position237548497
GeneRYR2
is asnp
is mentioned by
dbSNPrs2253273
dbSNP (old)rs2253273
ClinGenrs2253273
ebirs2253273
HLIrs2253273
Exacrs2253273
Gnomadrs2253273
Varsomers2253273
Maprs2253273
PheGenIrs2253273
Biobankrs2253273
1000 genomesrs2253273
hgdprs2253273
ensemblrs2253273
gopubmedrs2253273
geneviewrs2253273
scholarrs2253273
googlers2253273
pharmgkbrs2253273
gwascentralrs2253273
openSNPrs2253273
23andMers2253273
23andMe allrs2253273
SNP Nexus

SNPshotrs2253273
SNPdbers2253273
MSV3drs2253273
GWAS Ctlgrs2253273
Max Magnitude0

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


ClinVar
Risk rs2253273(A;A) rs2253273(C;C) rs2253273(G;G)
Alt rs2253273(A;A) rs2253273(C;C) rs2253273(G;G)
Reference Rs2253273(T;T)
Significance Probable-non-pathogenic
Disease not specified Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia
Variation info
Gene RYR2
CLNDBN not specified Cardiovascular phenotype Cardiomyopathy, ARVC Catecholaminergic polymorphic ventricular tachycardia
Reversed 1
HGVS NC_000001.10:g.237711797A>G
CLNSRC ClinVar
CLNACC RCV000036722.4, RCV000244776.1, RCV000270161.1, RCV000364946.1,