rs199473347
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs199473347(A;A) |
| Make rs199473347(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 4 |
| Position | 113367619 |
| Gene | ANK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199473347 |
| dbSNP (classic) | rs199473347 |
| ClinGen | rs199473347 |
| ebi | rs199473347 |
| HLI | rs199473347 |
| Exac | rs199473347 |
| Gnomad | rs199473347 |
| Varsome | rs199473347 |
| LitVar | rs199473347 |
| Map | rs199473347 |
| PheGenI | rs199473347 |
| Biobank | rs199473347 |
| 1000 genomes | rs199473347 |
| hgdp | rs199473347 |
| ensembl | rs199473347 |
| geneview | rs199473347 |
| scholar | rs199473347 |
| rs199473347 | |
| pharmgkb | rs199473347 |
| gwascentral | rs199473347 |
| openSNP | rs199473347 |
| 23andMe | rs199473347 |
| SNPshot | rs199473347 |
| SNPdbe | rs199473347 |
| MSV3d | rs199473347 |
| GWAS Ctlg | rs199473347 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199473347(A;A) rs199473347(C;C) |
| Alt | rs199473347(A;A) rs199473347(C;C) |
| Reference | Rs199473347(G;G) |
| Significance | Untested |
| Disease | Congenital long QT syndrome |
| Variation | info |
| Gene | ANK2 |
| CLNDBN | Congenital long QT syndrome |
| Reversed | 0 |
| HGVS | NC_000004.11:g.114288775G>A |
| CLNSRC | Cardiovascular Biomedical Research Unit ClinVar |
| CLNACC | RCV000058345.3, |
