rs398123063
From SNPedia
| Rare inherited variant associated with a form of B-cell leukemia |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3 | increased risk for pre-B cell acute lymphoblastic leukemia (B-ALL) |
| (A;G) | 3 | associated with increased risk for pre-B cell acute lymphoblastic leukemia (B-ALL) |
| (G;G) | 0 | common/normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 37002705 |
| Gene | LOC105376032, PAX5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398123063 |
| dbSNP (classic) | rs398123063 |
| ClinGen | rs398123063 |
| ebi | rs398123063 |
| HLI | rs398123063 |
| Exac | rs398123063 |
| Gnomad | rs398123063 |
| Varsome | rs398123063 |
| LitVar | rs398123063 |
| Map | rs398123063 |
| PheGenI | rs398123063 |
| Biobank | rs398123063 |
| 1000 genomes | rs398123063 |
| hgdp | rs398123063 |
| ensembl | rs398123063 |
| geneview | rs398123063 |
| scholar | rs398123063 |
| rs398123063 | |
| pharmgkb | rs398123063 |
| gwascentral | rs398123063 |
| openSNP | rs398123063 |
| 23andMe | rs398123063 |
| SNPshot | rs398123063 |
| SNPdbe | rs398123063 |
| MSV3d | rs398123063 |
| GWAS Ctlg | rs398123063 |
| Max Magnitude | 3 |
rs398123063(A), a rare variation known as c.547G>A or Gly183Ser, has been associated with autosomal dominant B cell precursor acute lymphoblastic leukemia (B-ALL). Individuals carrying this variation appear to require the deletion or inactivation of their normal allele at this locus to develop clinical symptoms of B-ALL.[PMID 24013638
]
| ClinVar | |
|---|---|
| Risk | Rs398123063(A;A) |
| Alt | Rs398123063(A;A) |
| Reference | Rs398123063(G;G) |
| Significance | Other |
| Disease | Leukemia |
| Variation | info |
| Gene | PAX5 |
| CLNDBN | Leukemia, acute lymphoblastic, susceptibility to, 3 |
| Reversed | 1 |
| HGVS | NC_000009.11:g.37002702C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000074461.3, |
