rs41479347
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs41479347(C;G) |
| Make rs41479347(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173540 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41479347 |
| dbSNP (classic) | rs41479347 |
| ClinGen | rs41479347 |
| ebi | rs41479347 |
| HLI | rs41479347 |
| Exac | rs41479347 |
| Gnomad | rs41479347 |
| Varsome | rs41479347 |
| LitVar | rs41479347 |
| Map | rs41479347 |
| PheGenI | rs41479347 |
| Biobank | rs41479347 |
| 1000 genomes | rs41479347 |
| hgdp | rs41479347 |
| ensembl | rs41479347 |
| geneview | rs41479347 |
| scholar | rs41479347 |
| rs41479347 | |
| pharmgkb | rs41479347 |
| gwascentral | rs41479347 |
| openSNP | rs41479347 |
| 23andMe | rs41479347 |
| SNPshot | rs41479347 |
| SNPdbe | rs41479347 |
| MSV3d | rs41479347 |
| GWAS Ctlg | rs41479347 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41479347(G;G) |
| Alt | rs41479347(G;G) |
| Reference | Rs41479347(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN WESTMEAD |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN WESTMEAD |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223539C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017178.1, |
[PMID 1686260] Hb Westmead: an alpha 2-globin gene mutation detected by polymerase chain reaction and Stu I cleavage.
[PMID 1787098] Hb Westmead [alpha 122(H5)His----Gln], Hb E [beta 26(B8)Glu----Lys], and alpha-thalassemia-2 (3.7 Kb deletion) in a Laotian family.
[PMID 6153381] Hemoglobin Westmead alpha 2 122(H5)His replaced by Gln beta 2: a new hemoglobin variant with the substitution in the alpha 1 beta 1 contact area.
[PMID 15182058] Thalassemia intermedia due to co-inheritance of beta0/beta(+)-thalassemia and (- -SEA) alpha-thalassemia/Hb Westmead [alpha122(H5)His > Gln (alpha2)] in a Chinese family.
