rs36078803
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs36078803(C;G) |
| Make rs36078803(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5233032 |
| Gene | HBD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs36078803 |
| dbSNP (classic) | rs36078803 |
| ClinGen | rs36078803 |
| ebi | rs36078803 |
| HLI | rs36078803 |
| Exac | rs36078803 |
| Gnomad | rs36078803 |
| Varsome | rs36078803 |
| LitVar | rs36078803 |
| Map | rs36078803 |
| PheGenI | rs36078803 |
| Biobank | rs36078803 |
| 1000 genomes | rs36078803 |
| hgdp | rs36078803 |
| ensembl | rs36078803 |
| geneview | rs36078803 |
| scholar | rs36078803 |
| rs36078803 | |
| pharmgkb | rs36078803 |
| gwascentral | rs36078803 |
| openSNP | rs36078803 |
| 23andMe | rs36078803 |
| SNPshot | rs36078803 |
| SNPdbe | rs36078803 |
| MSV3d | rs36078803 |
| GWAS Ctlg | rs36078803 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs36078803(G;G) |
| Alt | rs36078803(G;G) |
| Reference | Rs36078803(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN A(2) ZAGREB |
| Variation | info |
| Gene | HBD |
| CLNDBN | HEMOGLOBIN A(2) ZAGREB |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5254262G>C |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016206.1, |
[PMID 6629826] Hb A2-Zagreb or alpha 2 delta 2(125)(H3)Gln replaced by Glu, a new delta chain variant in association with delta beta-thalassemia.
