rs34817956
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (A;{{{allele2}}}) | 3 | Alpha-thalassemia allele carrier |
| Make rs34817956(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 172934 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34817956 |
| dbSNP (classic) | rs34817956 |
| ClinGen | rs34817956 |
| ebi | rs34817956 |
| HLI | rs34817956 |
| Exac | rs34817956 |
| Gnomad | rs34817956 |
| Varsome | rs34817956 |
| LitVar | rs34817956 |
| Map | rs34817956 |
| PheGenI | rs34817956 |
| Biobank | rs34817956 |
| 1000 genomes | rs34817956 |
| hgdp | rs34817956 |
| ensembl | rs34817956 |
| geneview | rs34817956 |
| scholar | rs34817956 |
| rs34817956 | |
| pharmgkb | rs34817956 |
| gwascentral | rs34817956 |
| openSNP | rs34817956 |
| 23andMe | rs34817956 |
| SNPshot | rs34817956 |
| SNPdbe | rs34817956 |
| MSV3d | rs34817956 |
| GWAS Ctlg | rs34817956 |
| Merged from | Rs111033607 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs34817956(C;C) rs34817956(G;G) |
| Alt | rs34817956(C;C) rs34817956(G;G) |
| Reference | Rs34817956(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN KUROSAKI |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN KUROSAKI |
| Reversed | 0 |
| HGVS | NC_000016.9:g.222933A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016982.2, |
[PMID 7558876] Hb Kurosaki [alpha 7(A5)Lys-->Glu]: a new alpha chain variant found in a Japanese woman.
[PMID 10725765] Molecular characterization of hemoglobins Kurosaki [alpha7 Lys-->Glu], G-Pest [alpha74 Asp-->Asn], Stanleyville-II [alpha78 Asn-->Lys] and J-Rovigo [alpha53 Ala-->Asp].
