rs7521023
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs7521023(A;A) |
| Make rs7521023(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 115700759 |
| Gene | CASQ2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7521023 |
| dbSNP (classic) | rs7521023 |
| ClinGen | rs7521023 |
| ebi | rs7521023 |
| HLI | rs7521023 |
| Exac | rs7521023 |
| Gnomad | rs7521023 |
| Varsome | rs7521023 |
| LitVar | rs7521023 |
| Map | rs7521023 |
| PheGenI | rs7521023 |
| Biobank | rs7521023 |
| 1000 genomes | rs7521023 |
| hgdp | rs7521023 |
| ensembl | rs7521023 |
| geneview | rs7521023 |
| scholar | rs7521023 |
| rs7521023 | |
| pharmgkb | rs7521023 |
| gwascentral | rs7521023 |
| openSNP | rs7521023 |
| 23andMe | rs7521023 |
| SNPshot | rs7521023 |
| SNPdbe | rs7521023 |
| MSV3d | rs7521023 |
| GWAS Ctlg | rs7521023 |
| GMAF | 0.3118 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 24444446
] Association of CASQ2 Polymorphisms With Sudden Cardiac Arrest and Heart Failure in Patients with Coronary Artery Disease
| ClinVar | |
|---|---|
| Risk | rs7521023(A;A) |
| Alt | rs7521023(A;A) |
| Reference | Rs7521023(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Catecholaminergic polymorphic ventricular tachycardia Neural tube defect Caudal dysgenesis syndrome |
| Variation | info |
| Gene | CASQ2 |
| CLNDBN | Catecholaminergic polymorphic ventricular tachycardia Neural tube defect Caudal dysgenesis syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.116243380G>A |
| CLNSRC | |
| CLNACC | RCV000264813.1, RCV000272946.1, RCV000330414.1, |
