rs3765097
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs3765097(C;T) |
| Make rs3765097(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 237454457 |
| Gene | RYR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3765097 |
| dbSNP (classic) | rs3765097 |
| ClinGen | rs3765097 |
| ebi | rs3765097 |
| HLI | rs3765097 |
| Exac | rs3765097 |
| Gnomad | rs3765097 |
| Varsome | rs3765097 |
| LitVar | rs3765097 |
| Map | rs3765097 |
| PheGenI | rs3765097 |
| Biobank | rs3765097 |
| 1000 genomes | rs3765097 |
| hgdp | rs3765097 |
| ensembl | rs3765097 |
| geneview | rs3765097 |
| scholar | rs3765097 |
| rs3765097 | |
| pharmgkb | rs3765097 |
| gwascentral | rs3765097 |
| openSNP | rs3765097 |
| 23andMe | rs3765097 |
| SNPshot | rs3765097 |
| SNPdbe | rs3765097 |
| MSV3d | rs3765097 |
| GWAS Ctlg | rs3765097 |
| Max Magnitude | 0 |
[PMID 24978818
] RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort.
| ClinVar | |
|---|---|
| Risk | rs3765097(T;T) |
| Alt | rs3765097(T;T) |
| Reference | Rs3765097(C;C) |
| 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 | 0 |
| HGVS | NC_000001.10:g.237617757C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000036681.4, RCV000252560.1, RCV000306732.1, RCV000363710.1, |
