rs58238559
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs58238559(C;C) |
| Make rs58238559(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 87452957 |
| Gene | ABCB4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs58238559 |
| dbSNP (classic) | rs58238559 |
| ClinGen | rs58238559 |
| ebi | rs58238559 |
| HLI | rs58238559 |
| Exac | rs58238559 |
| Gnomad | rs58238559 |
| Varsome | rs58238559 |
| LitVar | rs58238559 |
| Map | rs58238559 |
| PheGenI | rs58238559 |
| Biobank | rs58238559 |
| 1000 genomes | rs58238559 |
| hgdp | rs58238559 |
| ensembl | rs58238559 |
| geneview | rs58238559 |
| scholar | rs58238559 |
| rs58238559 | |
| pharmgkb | rs58238559 |
| gwascentral | rs58238559 |
| openSNP | rs58238559 |
| 23andMe | rs58238559 |
| SNPshot | rs58238559 |
| SNPdbe | rs58238559 |
| MSV3d | rs58238559 |
| GWAS Ctlg | rs58238559 |
| GMAF | 0.005969 |
| Max Magnitude | 0 |
aka c.523A>G (p.Thr175Ala)
Based on a 2015 study of <100 patients, individuals carrying a rs58238559(C) allele have a 3.75-fold increase in the probability of developing atrial fibrillation/flutter.[PMID 25888430
]
| ClinVar | |
|---|---|
| Risk | rs58238559(C;C) |
| Alt | rs58238559(C;C) |
| Reference | Rs58238559(T;T) |
| Significance | Other |
| Disease | Cholecystitis not provided not specified |
| Variation | info |
| Gene | ABCB4 |
| CLNDBN | Cholecystitis not provided not specified |
| Reversed | 0 |
| HGVS | NC_000007.13:g.87082273T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014690.25, RCV000224371.1, RCV000244656.4, |
