rs41315858
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs41315858(A;A) |
| Make rs41315858(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 237614782 |
| Gene | RYR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41315858 |
| dbSNP (classic) | rs41315858 |
| ClinGen | rs41315858 |
| ebi | rs41315858 |
| HLI | rs41315858 |
| Exac | rs41315858 |
| Gnomad | rs41315858 |
| Varsome | rs41315858 |
| LitVar | rs41315858 |
| Map | rs41315858 |
| PheGenI | rs41315858 |
| Biobank | rs41315858 |
| 1000 genomes | rs41315858 |
| hgdp | rs41315858 |
| ensembl | rs41315858 |
| geneview | rs41315858 |
| scholar | rs41315858 |
| rs41315858 | |
| pharmgkb | rs41315858 |
| gwascentral | rs41315858 |
| openSNP | rs41315858 |
| 23andMe | rs41315858 |
| SNPshot | rs41315858 |
| SNPdbe | rs41315858 |
| MSV3d | rs41315858 |
| GWAS Ctlg | rs41315858 |
| GMAF | 0.01837 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41315858(A;A) rs41315858(C;C) |
| Alt | rs41315858(A;A) rs41315858(C;C) |
| Reference | Rs41315858(G;G) |
| Significance | Other |
| Disease | Arrhythmogenic right ventricular cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype Cardiomyopathy |
| Variation | info |
| Gene | RYR2 |
| CLNDBN | Arrhythmogenic right ventricular cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype Cardiomyopathy, ARVC |
| Reversed | 0 |
| HGVS | NC_000001.10:g.237778082G>A |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000030425.1, RCV000036770.4, RCV000238788.2, RCV000246866.1, RCV000269521.1, |
[PMID 19709828] Genetic variability of RyR2 and CASQ2 genes in an Asian population.
[PMID 18326664
] ARVC-related mutations in divergent region 3 alter functional properties of the cardiac ryanodine receptor.
[PMID 16769042] Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy.
[PMID 11159936] Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).
