rs121912705
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs121912705(A;A) |
| Make rs121912705(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 113367764 |
| Gene | ANK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912705 |
| dbSNP (classic) | rs121912705 |
| ClinGen | rs121912705 |
| ebi | rs121912705 |
| HLI | rs121912705 |
| Exac | rs121912705 |
| Gnomad | rs121912705 |
| Varsome | rs121912705 |
| LitVar | rs121912705 |
| Map | rs121912705 |
| PheGenI | rs121912705 |
| Biobank | rs121912705 |
| 1000 genomes | rs121912705 |
| hgdp | rs121912705 |
| ensembl | rs121912705 |
| geneview | rs121912705 |
| scholar | rs121912705 |
| rs121912705 | |
| pharmgkb | rs121912705 |
| gwascentral | rs121912705 |
| openSNP | rs121912705 |
| 23andMe | rs121912705 |
| SNPshot | rs121912705 |
| SNPdbe | rs121912705 |
| MSV3d | rs121912705 |
| GWAS Ctlg | rs121912705 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121912705(A;A) |
| Alt | rs121912705(A;A) |
| Reference | Rs121912705(C;C) |
| Significance | Other |
| Disease | Cardiac arrhythmia Arrhythmia Cardiac arrhythmia Long QT syndrome not specified |
| Variation | info |
| Gene | ANK2 |
| CLNDBN | Cardiac arrhythmia, ankyrin B-related Arrhythmia Cardiac arrhythmia Long QT syndrome not specified |
| Reversed | 0 |
| HGVS | NC_000004.11:g.114288920C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019674.28, RCV000058347.3, RCV000171749.3, RCV000204635.3, RCV000223796.3, |
[PMID 15178757
] A cardiac arrhythmia syndrome caused by loss of ankyrin-B function.
