rs34220980
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs34220980(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176717 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34220980 |
| dbSNP (classic) | rs34220980 |
| ClinGen | rs34220980 |
| ebi | rs34220980 |
| HLI | rs34220980 |
| Exac | rs34220980 |
| Gnomad | rs34220980 |
| Varsome | rs34220980 |
| LitVar | rs34220980 |
| Map | rs34220980 |
| PheGenI | rs34220980 |
| Biobank | rs34220980 |
| 1000 genomes | rs34220980 |
| hgdp | rs34220980 |
| ensembl | rs34220980 |
| geneview | rs34220980 |
| scholar | rs34220980 |
| rs34220980 | |
| pharmgkb | rs34220980 |
| gwascentral | rs34220980 |
| openSNP | rs34220980 |
| 23andMe | rs34220980 |
| SNPshot | rs34220980 |
| SNPdbe | rs34220980 |
| MSV3d | rs34220980 |
| GWAS Ctlg | rs34220980 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34220980(G;G) |
| Alt | rs34220980(G;G) |
| Reference | Rs34220980(A;A) |
| Significance | Untested |
| Disease | |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226716A>G |
| CLNSRC | |
| CLNACC | |
[PMID 3680504
] An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype.
