rs63751150
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (ACC;ACC) | 0 | common in complete genomics |
| Make rs63751150(-;-) |
| Make rs63751150(-;ACC) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176951 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63751150 |
| dbSNP (classic) | rs63751150 |
| ClinGen | rs63751150 |
| ebi | rs63751150 |
| HLI | rs63751150 |
| Exac | rs63751150 |
| Gnomad | rs63751150 |
| Varsome | rs63751150 |
| LitVar | rs63751150 |
| Map | rs63751150 |
| PheGenI | rs63751150 |
| Biobank | rs63751150 |
| 1000 genomes | rs63751150 |
| hgdp | rs63751150 |
| ensembl | rs63751150 |
| geneview | rs63751150 |
| scholar | rs63751150 |
| rs63751150 | |
| pharmgkb | rs63751150 |
| gwascentral | rs63751150 |
| openSNP | rs63751150 |
| 23andMe | rs63751150 |
| SNPshot | rs63751150 |
| SNPdbe | rs63751150 |
| MSV3d | rs63751150 |
| GWAS Ctlg | rs63751150 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63751150(-;-) |
| Alt | rs63751150(-;-) |
| Reference | rs63751150(CCA;CCA) |
| Significance | Other |
| Disease | HEMOGLOBIN TAYBE |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN TAYBE |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226950_226952delACC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017204.2, |
[PMID 7942784] Compound heterozygosity for two alpha-globin gene defects, Hb Taybe (alpha 1; 38 or 39 minus Thr) and a poly A mutation (alpha 2; AATAAA-->AATAAG), results in a severe hemolytic anemia.
[PMID 7994622] Hb Taybe (alpha 38 or 39 THR deleted): an alpha-globin defect, silent in the heterozygous state and producing severe hemolytic anemia in the homozygous.
[PMID 9576334] HB Taybe: description of genetics and laboratory findings in an Israeli Arab family.
