rs34313675
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs34313675(A;A) |
| Make rs34313675(A;T) |
| Make rs34313675(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5234395 |
| Gene | HBD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34313675 |
| dbSNP (classic) | rs34313675 |
| ClinGen | rs34313675 |
| ebi | rs34313675 |
| HLI | rs34313675 |
| Exac | rs34313675 |
| Gnomad | rs34313675 |
| Varsome | rs34313675 |
| LitVar | rs34313675 |
| Map | rs34313675 |
| PheGenI | rs34313675 |
| Biobank | rs34313675 |
| 1000 genomes | rs34313675 |
| hgdp | rs34313675 |
| ensembl | rs34313675 |
| geneview | rs34313675 |
| scholar | rs34313675 |
| rs34313675 | |
| pharmgkb | rs34313675 |
| gwascentral | rs34313675 |
| openSNP | rs34313675 |
| 23andMe | rs34313675 |
| SNPshot | rs34313675 |
| SNPdbe | rs34313675 |
| MSV3d | rs34313675 |
| GWAS Ctlg | rs34313675 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34313675(A;A) |
| Alt | rs34313675(A;A) |
| Reference | rs34313675(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN A(2) NYU HEMOGLOBIN NYU |
| Variation | info |
| Gene | HBD |
| CLNDBN | HEMOGLOBIN A(2) NYU HEMOGLOBIN NYU |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5255625A>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016199.2, RCV000016200.2, |
[PMID 4852213] Haemoglobin A2-NYU in the Netherlands. Incidence of delta-chain variants in human populations.
[PMID 5050942] Hemoglobins A 2 -Sphakia and A 2 -NYU in Canada.
[PMID 5824070
] Hemoglobin NYU, a delta chain variant, alpha 2 delta 2 lys.
[PMID 5956225] Hemoglobin A'2 abnormality associated with thalassemia minor in a Greek woman. Study of a family.
