rs35974739
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Alpha-thalassemia allele carrier |
| (T;T) | 0 | common in complete genomics |
| Make rs35974739(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177376 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35974739 |
| dbSNP (classic) | rs35974739 |
| ClinGen | rs35974739 |
| ebi | rs35974739 |
| HLI | rs35974739 |
| Exac | rs35974739 |
| Gnomad | rs35974739 |
| Varsome | rs35974739 |
| LitVar | rs35974739 |
| Map | rs35974739 |
| PheGenI | rs35974739 |
| Biobank | rs35974739 |
| 1000 genomes | rs35974739 |
| hgdp | rs35974739 |
| ensembl | rs35974739 |
| geneview | rs35974739 |
| scholar | rs35974739 |
| rs35974739 | |
| pharmgkb | rs35974739 |
| gwascentral | rs35974739 |
| openSNP | rs35974739 |
| 23andMe | rs35974739 |
| SNPshot | rs35974739 |
| SNPdbe | rs35974739 |
| MSV3d | rs35974739 |
| GWAS Ctlg | rs35974739 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs35974739(C;C) |
| Alt | rs35974739(C;C) |
| Reference | Rs35974739(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN QUESTEMBERT |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN QUESTEMBERT |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227375T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017187.2, |
[PMID 7717382] Hb Questembert is due to a base substitution (T-->C) in codon 131 of the alpha 2-globin gene and has an alpha-thalassemia biosynthetic ratio.
[PMID 8493987] Unstable alpha-chain hemoglobin variants with factitious beta-thalassemia biosynthetic ratio: Hb Questembert (alpha 131[H14]Ser-->Pro) and Hb Caen (alpha 132[H15]Val-->Gly).
