rs35790721
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs35790721(A;T) |
| Make rs35790721(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5233043 |
| Gene | HBD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35790721 |
| dbSNP (classic) | rs35790721 |
| ClinGen | rs35790721 |
| ebi | rs35790721 |
| HLI | rs35790721 |
| Exac | rs35790721 |
| Gnomad | rs35790721 |
| Varsome | rs35790721 |
| LitVar | rs35790721 |
| Map | rs35790721 |
| PheGenI | rs35790721 |
| Biobank | rs35790721 |
| 1000 genomes | rs35790721 |
| hgdp | rs35790721 |
| ensembl | rs35790721 |
| geneview | rs35790721 |
| scholar | rs35790721 |
| rs35790721 | |
| pharmgkb | rs35790721 |
| gwascentral | rs35790721 |
| openSNP | rs35790721 |
| 23andMe | rs35790721 |
| SNPshot | rs35790721 |
| SNPdbe | rs35790721 |
| MSV3d | rs35790721 |
| GWAS Ctlg | rs35790721 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35790721(T;T) |
| Alt | rs35790721(T;T) |
| Reference | Rs35790721(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN A(2) MANZANARES |
| Variation | info |
| Gene | HBD |
| CLNDBN | HEMOGLOBIN A(2) MANZANARES |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5254273T>A |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016197.1, |
[PMID 6629825] Hb A2-Manzanares or alpha 2 delta 2 121 (GH4) Glu replaced by Val, an unstable delta chain variant observed in a Spanish family.
