rs34743106
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs34743106(C;C) |
| Make rs34743106(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176789 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34743106 |
| dbSNP (classic) | rs34743106 |
| ClinGen | rs34743106 |
| ebi | rs34743106 |
| HLI | rs34743106 |
| Exac | rs34743106 |
| Gnomad | rs34743106 |
| Varsome | rs34743106 |
| LitVar | rs34743106 |
| Map | rs34743106 |
| PheGenI | rs34743106 |
| Biobank | rs34743106 |
| 1000 genomes | rs34743106 |
| hgdp | rs34743106 |
| ensembl | rs34743106 |
| geneview | rs34743106 |
| scholar | rs34743106 |
| rs34743106 | |
| pharmgkb | rs34743106 |
| gwascentral | rs34743106 |
| openSNP | rs34743106 |
| 23andMe | rs34743106 |
| SNPshot | rs34743106 |
| SNPdbe | rs34743106 |
| MSV3d | rs34743106 |
| GWAS Ctlg | rs34743106 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34743106(C;C) |
| Alt | rs34743106(C;C) |
| Reference | Rs34743106(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN LUXEMBOURG |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN LUXEMBOURG |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226788T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017097.2, |
[PMID 1917540] Hb Luxembourg [alpha 24(B5)Tyr----His], Hb Maputo [beta 47(CD6)Asp----Tyr], and Hb Fukuyama [beta 77(EF1)His----Tyr].
[PMID 2599879] Hb Luxembourg [alpha 24(B5) Tyr----His]: a new unstable variant.
