rs34011123
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs34011123(C;C) |
| Make rs34011123(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 16 |
| Position | 177397 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34011123 |
| dbSNP (classic) | rs34011123 |
| ClinGen | rs34011123 |
| ebi | rs34011123 |
| HLI | rs34011123 |
| Exac | rs34011123 |
| Gnomad | rs34011123 |
| Varsome | rs34011123 |
| LitVar | rs34011123 |
| Map | rs34011123 |
| PheGenI | rs34011123 |
| Biobank | rs34011123 |
| 1000 genomes | rs34011123 |
| hgdp | rs34011123 |
| ensembl | rs34011123 |
| geneview | rs34011123 |
| scholar | rs34011123 |
| rs34011123 | |
| pharmgkb | rs34011123 |
| gwascentral | rs34011123 |
| openSNP | rs34011123 |
| 23andMe | rs34011123 |
| SNPshot | rs34011123 |
| SNPdbe | rs34011123 |
| MSV3d | rs34011123 |
| GWAS Ctlg | rs34011123 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34011123(C;C) |
| Alt | rs34011123(C;C) |
| Reference | Rs34011123(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN ATTLEBORO |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN ATTLEBORO |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227396T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016993.2, |
[PMID 2108715] Structural, functional, and subunit assembly properties of hemoglobin Attleboro [alpha 138 (H21) Ser----Pro], a variant possessing a site maturation at a critical C-terminal residue.
