rs4074536
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs4074536(C;C) |
| Make rs4074536(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 115768346 |
| Gene | CASQ2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4074536 |
| dbSNP (classic) | rs4074536 |
| ClinGen | rs4074536 |
| ebi | rs4074536 |
| HLI | rs4074536 |
| Exac | rs4074536 |
| Gnomad | rs4074536 |
| Varsome | rs4074536 |
| LitVar | rs4074536 |
| Map | rs4074536 |
| PheGenI | rs4074536 |
| Biobank | rs4074536 |
| 1000 genomes | rs4074536 |
| hgdp | rs4074536 |
| ensembl | rs4074536 |
| geneview | rs4074536 |
| scholar | rs4074536 |
| rs4074536 | |
| pharmgkb | rs4074536 |
| gwascentral | rs4074536 |
| openSNP | rs4074536 |
| 23andMe | rs4074536 |
| SNPshot | rs4074536 |
| SNPdbe | rs4074536 |
| MSV3d | rs4074536 |
| GWAS Ctlg | rs4074536 |
| GMAF | 0.4137 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 21076409 |
| Trait | |
| Title | Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction |
| Risk Allele | C |
| P-val | 2E-8 |
| Odds Ratio | 0.4200 [0.28-0.56] ms decrease |
| ClinVar | |
|---|---|
| Risk | rs4074536(C;C) |
| Alt | rs4074536(C;C) |
| Reference | Rs4074536(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia |
| Variation | info |
| Gene | CASQ2 |
| CLNDBN | not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.116310967T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000037136.4, RCV000247814.1, RCV000389613.1, |
