rs35530544
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs35530544(A;A) |
| Make rs35530544(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 113367751 |
| Gene | ANK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35530544 |
| dbSNP (classic) | rs35530544 |
| ClinGen | rs35530544 |
| ebi | rs35530544 |
| HLI | rs35530544 |
| Exac | rs35530544 |
| Gnomad | rs35530544 |
| Varsome | rs35530544 |
| LitVar | rs35530544 |
| Map | rs35530544 |
| PheGenI | rs35530544 |
| Biobank | rs35530544 |
| 1000 genomes | rs35530544 |
| hgdp | rs35530544 |
| ensembl | rs35530544 |
| geneview | rs35530544 |
| scholar | rs35530544 |
| rs35530544 | |
| pharmgkb | rs35530544 |
| gwascentral | rs35530544 |
| openSNP | rs35530544 |
| 23andMe | rs35530544 |
| SNPshot | rs35530544 |
| SNPdbe | rs35530544 |
| MSV3d | rs35530544 |
| GWAS Ctlg | rs35530544 |
| GMAF | 0.008724 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35530544(A;A) |
| Alt | rs35530544(A;A) |
| Reference | Rs35530544(C;C) |
| Significance | Other |
| Disease | Cardiac arrhythmia not provided Cardiac arrhythmia Long QT syndrome Cardiovascular phenotype |
| Variation | info |
| Gene | ANK2 |
| CLNDBN | Cardiac arrhythmia, ankyrin B-related not provided Cardiac arrhythmia Long QT syndrome Cardiovascular phenotype |
| Reversed | 0 |
| HGVS | NC_000004.11:g.114288907C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019675.23, RCV000058346.3, RCV000171797.1, RCV000227575.3, RCV000242138.1, |
[PMID 15178757
] A cardiac arrhythmia syndrome caused by loss of ankyrin-B function.
