rs10754602
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs10754602(A;A) |
| Make rs10754602(A;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 237388076 |
| Gene | RYR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10754602 |
| dbSNP (classic) | rs10754602 |
| ClinGen | rs10754602 |
| ebi | rs10754602 |
| HLI | rs10754602 |
| Exac | rs10754602 |
| Gnomad | rs10754602 |
| Varsome | rs10754602 |
| LitVar | rs10754602 |
| Map | rs10754602 |
| PheGenI | rs10754602 |
| Biobank | rs10754602 |
| 1000 genomes | rs10754602 |
| hgdp | rs10754602 |
| ensembl | rs10754602 |
| geneview | rs10754602 |
| scholar | rs10754602 |
| rs10754602 | |
| pharmgkb | rs10754602 |
| gwascentral | rs10754602 |
| openSNP | rs10754602 |
| 23andMe | rs10754602 |
| SNPshot | rs10754602 |
| SNPdbe | rs10754602 |
| MSV3d | rs10754602 |
| GWAS Ctlg | rs10754602 |
| Max Magnitude | 0 |
[PMID 24978818
] RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort.
| ClinVar | |
|---|---|
| Risk | rs10754602(A;A) rs10754602(C;C) |
| Alt | rs10754602(A;A) rs10754602(C;C) |
| Reference | Rs10754602(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia |
| Variation | info |
| Gene | RYR2 |
| CLNDBN | not specified Cardiomyopathy, ARVC Catecholaminergic polymorphic ventricular tachycardia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.237551376T>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000036781.4, RCV000300385.1, RCV000357582.1, |
