rs34967813
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs34967813(A;G) |
| Make rs34967813(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 237678090 |
| Gene | RYR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34967813 |
| dbSNP (classic) | rs34967813 |
| ClinGen | rs34967813 |
| ebi | rs34967813 |
| HLI | rs34967813 |
| Exac | rs34967813 |
| Gnomad | rs34967813 |
| Varsome | rs34967813 |
| LitVar | rs34967813 |
| Map | rs34967813 |
| PheGenI | rs34967813 |
| Biobank | rs34967813 |
| 1000 genomes | rs34967813 |
| hgdp | rs34967813 |
| ensembl | rs34967813 |
| geneview | rs34967813 |
| scholar | rs34967813 |
| rs34967813 | |
| pharmgkb | rs34967813 |
| gwascentral | rs34967813 |
| openSNP | rs34967813 |
| 23andMe | rs34967813 |
| SNPshot | rs34967813 |
| SNPdbe | rs34967813 |
| MSV3d | rs34967813 |
| GWAS Ctlg | rs34967813 |
| GMAF | 0.1437 |
| Max Magnitude | 0 |
[PMID 19926015
] 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 18437561] 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.
| ClinVar | |
|---|---|
| Risk | rs34967813(G;G) |
| Alt | rs34967813(G;G) |
| Reference | Rs34967813(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Cardiomyopathy not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia |
| Variation | info |
| Gene | RYR2 |
| CLNDBN | Cardiomyopathy not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy, ARVC |
| Reversed | 0 |
| HGVS | NC_000001.10:g.237841390A>G |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000030429.1, RCV000036801.9, RCV000249909.1, RCV000283576.1, RCV000380338.1, |
