rs63750943
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs63750943(-;-) |
| Make rs63750943(-;GAC) |
| Make rs63750943(GAC;GAC) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173255 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750943 |
| dbSNP (classic) | rs63750943 |
| ClinGen | rs63750943 |
| ebi | rs63750943 |
| HLI | rs63750943 |
| Exac | rs63750943 |
| Gnomad | rs63750943 |
| Varsome | rs63750943 |
| LitVar | rs63750943 |
| Map | rs63750943 |
| PheGenI | rs63750943 |
| Biobank | rs63750943 |
| 1000 genomes | rs63750943 |
| hgdp | rs63750943 |
| ensembl | rs63750943 |
| geneview | rs63750943 |
| scholar | rs63750943 |
| rs63750943 | |
| pharmgkb | rs63750943 |
| gwascentral | rs63750943 |
| openSNP | rs63750943 |
| 23andMe | rs63750943 |
| SNPshot | rs63750943 |
| SNPdbe | rs63750943 |
| MSV3d | rs63750943 |
| GWAS Ctlg | rs63750943 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63750943(-;-) |
| Alt | rs63750943(-;-) |
| Reference | rs63750943(GAC;GAC) |
| Significance | Other |
| Disease | HEMOGLOBIN WATTS |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN WATTS |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223254_223256delGAC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016945.1, |
[PMID 9255611] Hb Watts [alpha 74(EF3) or alpha 75(EF4)Asp-->0]: a shortened alpha chain variant due to the deletion of three nucleotides in exon 2 of the alpha 2-globin gene.
