rs34980264
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs34980264(A;A) |
| Make rs34980264(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225621 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34980264 |
| dbSNP (classic) | rs34980264 |
| ClinGen | rs34980264 |
| ebi | rs34980264 |
| HLI | rs34980264 |
| Exac | rs34980264 |
| Gnomad | rs34980264 |
| Varsome | rs34980264 |
| LitVar | rs34980264 |
| Map | rs34980264 |
| PheGenI | rs34980264 |
| Biobank | rs34980264 |
| 1000 genomes | rs34980264 |
| hgdp | rs34980264 |
| ensembl | rs34980264 |
| geneview | rs34980264 |
| scholar | rs34980264 |
| rs34980264 | |
| pharmgkb | rs34980264 |
| gwascentral | rs34980264 |
| openSNP | rs34980264 |
| 23andMe | rs34980264 |
| SNPshot | rs34980264 |
| SNPdbe | rs34980264 |
| MSV3d | rs34980264 |
| GWAS Ctlg | rs34980264 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34980264(A;A) |
| Alt | rs34980264(A;A) |
| Reference | Rs34980264(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN SAINT JACQUES |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN SAINT JACQUES |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246851C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016582.2, |
[PMID 6546525] Structure and function of Hb Saint-Jacques (alpha 2 beta 2 140 (H18) Ala----Thr): a new high-oxygen-affinity variant with altered bisphosphoglycerate binding.
