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rs34967813

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs34967813(A;G)
Make rs34967813(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position237678090
GeneRYR2
is asnp
is mentioned by
dbSNPrs34967813
ebirs34967813
HLIrs34967813
Exacrs34967813
Varsomers34967813
Maprs34967813
PheGenIrs34967813
hapmaprs34967813
1000 genomesrs34967813
hgdprs34967813
ensemblrs34967813
gopubmedrs34967813
geneviewrs34967813
scholarrs34967813
googlers34967813
pharmgkbrs34967813
gwascentralrs34967813
openSNPrs34967813
23andMers34967813
23andMe allrs34967813
SNP Nexus

SNPshotrs34967813
SNPdbers34967813
MSV3drs34967813
GWAS Ctlgrs34967813
GMAF0.1437
Max Magnitude0

[PMID 19926015OA-icon.png] The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

[PMID 19597050] Systematic assessment of patients with unexplained cardiac arrest: Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER).

[PMID 18437561OA-icon.png] Genomics, heart failure and sudden cardiac death.

[PMID 11159936] Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).

[PMID 11157710] Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia.


Venter snp
Source plos
Gene RYR2
allele G
frequency
sift TOLERATED
HuRef 1103675374331
Disease Association Defects in RYR2 are a cause of familial polymorphic ventricular tachycardia (FPVT) (MIM:192605). FPVT is an autosomal- dominant, inherited disease with a relatively early onset and a mortality rate of approximately 30% by the age of 30 years. Phenotypically, it is characterized by salvoes of bidirectional and polymorphic ventricular tachycardias in response to vigorous exercise, with no structural evidence of myocardial disease.



ClinVar
Risk rs34967813(G;G)
Alt rs34967813(G;G)
Reference rs34967813(A;A)
Significance Non-pathogenic
Disease Cardiomyopathy not specified
Variation info
Gene RYR2
CLNDBN Cardiomyopathy not specified
Reversed 0
HGVS NC_000001.10:g.237841390A>G
CLNSRC HGMD
CLNACC RCV000030429.1, RCV000036801.8,



GET Evidence
RYR2-Q2958R
aa_change Gln2958Arg
aa_change_short Q2958R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.22412
summary