rs34289459
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs34289459(C;C) |
| Make rs34289459(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5234353 |
| Gene | HBD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34289459 |
| dbSNP (classic) | rs34289459 |
| ClinGen | rs34289459 |
| ebi | rs34289459 |
| HLI | rs34289459 |
| Exac | rs34289459 |
| Gnomad | rs34289459 |
| Varsome | rs34289459 |
| LitVar | rs34289459 |
| Map | rs34289459 |
| PheGenI | rs34289459 |
| Biobank | rs34289459 |
| 1000 genomes | rs34289459 |
| hgdp | rs34289459 |
| ensembl | rs34289459 |
| geneview | rs34289459 |
| scholar | rs34289459 |
| rs34289459 | |
| pharmgkb | rs34289459 |
| gwascentral | rs34289459 |
| openSNP | rs34289459 |
| 23andMe | rs34289459 |
| SNPshot | rs34289459 |
| SNPdbe | rs34289459 |
| MSV3d | rs34289459 |
| GWAS Ctlg | rs34289459 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34289459(C;C) |
| Alt | rs34289459(C;C) |
| Reference | Rs34289459(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN A(2) PUGLIA |
| Variation | info |
| Gene | HBD |
| CLNDBN | HEMOGLOBIN A(2) PUGLIA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5255583C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016228.1, |
[PMID 8401543] A new delta-chain variant hemoglobin A2-Puglia or alpha 2 delta 2 26 Glu-->Asp (B8), detected by DNA analysis in a family of southern Italian origin.
