rs16835237
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs16835237(C;C) |
| Make rs16835237(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 237423084 |
| Gene | RYR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs16835237 |
| dbSNP (classic) | rs16835237 |
| ClinGen | rs16835237 |
| ebi | rs16835237 |
| HLI | rs16835237 |
| Exac | rs16835237 |
| Gnomad | rs16835237 |
| Varsome | rs16835237 |
| LitVar | rs16835237 |
| Map | rs16835237 |
| PheGenI | rs16835237 |
| Biobank | rs16835237 |
| 1000 genomes | rs16835237 |
| hgdp | rs16835237 |
| ensembl | rs16835237 |
| geneview | rs16835237 |
| scholar | rs16835237 |
| rs16835237 | |
| pharmgkb | rs16835237 |
| gwascentral | rs16835237 |
| openSNP | rs16835237 |
| 23andMe | rs16835237 |
| SNPshot | rs16835237 |
| SNPdbe | rs16835237 |
| MSV3d | rs16835237 |
| GWAS Ctlg | rs16835237 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 24978818
] 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, |
