rs754667801
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs754667801(C;T) |
| Make rs754667801(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 219216027 |
| Gene | ABCB6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs754667801 |
| dbSNP (classic) | rs754667801 |
| ClinGen | rs754667801 |
| ebi | rs754667801 |
| HLI | rs754667801 |
| Exac | rs754667801 |
| Gnomad | rs754667801 |
| Varsome | rs754667801 |
| LitVar | rs754667801 |
| Map | rs754667801 |
| PheGenI | rs754667801 |
| Biobank | rs754667801 |
| 1000 genomes | rs754667801 |
| hgdp | rs754667801 |
| ensembl | rs754667801 |
| geneview | rs754667801 |
| scholar | rs754667801 |
| rs754667801 | |
| pharmgkb | rs754667801 |
| gwascentral | rs754667801 |
| openSNP | rs754667801 |
| 23andMe | rs754667801 |
| SNPshot | rs754667801 |
| SNPdbe | rs754667801 |
| MSV3d | rs754667801 |
| GWAS Ctlg | rs754667801 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs754667801(T;T) |
| Alt | rs754667801(T;T) |
| Reference | Rs754667801(C;C) |
| Significance | Pathogenic |
| Disease | Pseudohyperkalemia |
| Variation | info |
| Gene | ABCB6 |
| CLNDBN | Pseudohyperkalemia, familial, 2, due to red cell leak |
| Reversed | 0 |
| HGVS | NC_000002.11:g.220080749C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000202403.1, |
