rs35203445
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs35203445(G;G) |
| Make rs35203445(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176937 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35203445 |
| dbSNP (classic) | rs35203445 |
| ClinGen | rs35203445 |
| ebi | rs35203445 |
| HLI | rs35203445 |
| Exac | rs35203445 |
| Gnomad | rs35203445 |
| Varsome | rs35203445 |
| LitVar | rs35203445 |
| Map | rs35203445 |
| PheGenI | rs35203445 |
| Biobank | rs35203445 |
| 1000 genomes | rs35203445 |
| hgdp | rs35203445 |
| ensembl | rs35203445 |
| geneview | rs35203445 |
| scholar | rs35203445 |
| rs35203445 | |
| pharmgkb | rs35203445 |
| gwascentral | rs35203445 |
| openSNP | rs35203445 |
| 23andMe | rs35203445 |
| SNPshot | rs35203445 |
| SNPdbe | rs35203445 |
| MSV3d | rs35203445 |
| GWAS Ctlg | rs35203445 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35203445(G;G) |
| Alt | rs35203445(G;G) |
| Reference | Rs35203445(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN OGI HEMOGLOBIN QUEENS |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN OGI HEMOGLOBIN QUEENS |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226936T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017133.2, RCV000017134.2, |
[PMID 1299245
] A family case of beta-thalassemia minor and hemoglobin Queens: alpha 34 (B15) Leu-Arg.
[PMID 3446653] Decreased heat stability found in purified hemoglobin Queens [alpha 34(B15)Leu----Arg].
[PMID 7055587] A new electrophoretic variant of hemoglobin (Ogi) in which a leucine residue is replaced by an arginine residue at position 34 of the alpha-chain.
[PMID 7096112] Hemoglobin Queens (alpha 34 (B15) Leu replaced by Arg) found in two Chinese families.
[PMID 7158628] Hemoglobin Queens: alpha 34 (B15) Leu-Arg structural and functional properties and its association with Hb E.
