rs80356714
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80356714(A;A) |
| Make rs80356714(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 75070433 |
| Gene | ABCB7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356714 |
| dbSNP (classic) | rs80356714 |
| ClinGen | rs80356714 |
| ebi | rs80356714 |
| HLI | rs80356714 |
| Exac | rs80356714 |
| Gnomad | rs80356714 |
| Varsome | rs80356714 |
| LitVar | rs80356714 |
| Map | rs80356714 |
| PheGenI | rs80356714 |
| Biobank | rs80356714 |
| 1000 genomes | rs80356714 |
| hgdp | rs80356714 |
| ensembl | rs80356714 |
| geneview | rs80356714 |
| scholar | rs80356714 |
| rs80356714 | |
| pharmgkb | rs80356714 |
| gwascentral | rs80356714 |
| openSNP | rs80356714 |
| 23andMe | rs80356714 |
| SNPshot | rs80356714 |
| SNPdbe | rs80356714 |
| MSV3d | rs80356714 |
| GWAS Ctlg | rs80356714 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356714(A;A) |
| Alt | rs80356714(A;A) |
| Reference | Rs80356714(G;G) |
| Significance | Pathogenic |
| Disease | Anemia sideroblastic and spinocerebellar ataxia |
| Variation | info |
| Gene | ABCB7 |
| CLNDBN | Anemia sideroblastic and spinocerebellar ataxia |
| Reversed | 1 |
| HGVS | NC_000023.10:g.74290268C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012331.24, |
[PMID 11050011] Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.
