rs759274321
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs759274321(C;T) |
| Make rs759274321(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 3 |
| Position | 53673723 |
| Gene | CACNA1D |
| is a | snp |
| is | mentioned by |
| dbSNP | rs759274321 |
| dbSNP (classic) | rs759274321 |
| ClinGen | rs759274321 |
| ebi | rs759274321 |
| HLI | rs759274321 |
| Exac | rs759274321 |
| Gnomad | rs759274321 |
| Varsome | rs759274321 |
| LitVar | rs759274321 |
| Map | rs759274321 |
| PheGenI | rs759274321 |
| Biobank | rs759274321 |
| 1000 genomes | rs759274321 |
| hgdp | rs759274321 |
| ensembl | rs759274321 |
| geneview | rs759274321 |
| scholar | rs759274321 |
| rs759274321 | |
| pharmgkb | rs759274321 |
| gwascentral | rs759274321 |
| openSNP | rs759274321 |
| 23andMe | rs759274321 |
| SNPshot | rs759274321 |
| SNPdbe | rs759274321 |
| MSV3d | rs759274321 |
| GWAS Ctlg | rs759274321 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs759274321(T;T) |
| Alt | rs759274321(T;T) |
| Reference | Rs759274321(C;C) |
| Significance | Pathogenic |
| Disease | Sinoatrial node dysfunction and deafness |
| Variation | info |
| Gene | CACNA1D |
| CLNDBN | Sinoatrial node dysfunction and deafness |
| Reversed | 0 |
| HGVS | NC_000003.11:g.53707750C>T |
| CLNSRC | |
| CLNACC | RCV000454162.1, |
