rs36008922
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs36008922(A;A) |
| Make rs36008922(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226690 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs36008922 |
| dbSNP (classic) | rs36008922 |
| ClinGen | rs36008922 |
| ebi | rs36008922 |
| HLI | rs36008922 |
| Exac | rs36008922 |
| Gnomad | rs36008922 |
| Varsome | rs36008922 |
| LitVar | rs36008922 |
| Map | rs36008922 |
| PheGenI | rs36008922 |
| Biobank | rs36008922 |
| 1000 genomes | rs36008922 |
| hgdp | rs36008922 |
| ensembl | rs36008922 |
| geneview | rs36008922 |
| scholar | rs36008922 |
| rs36008922 | |
| pharmgkb | rs36008922 |
| gwascentral | rs36008922 |
| openSNP | rs36008922 |
| 23andMe | rs36008922 |
| SNPshot | rs36008922 |
| SNPdbe | rs36008922 |
| MSV3d | rs36008922 |
| GWAS Ctlg | rs36008922 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs36008922(A;A) |
| Alt | rs36008922(A;A) |
| Reference | Rs36008922(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN BRISTOL HEMOGLOBIN ALESHA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN BRISTOL HEMOGLOBIN ALESHA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247920C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016276.2, RCV000016801.2, |
[PMID 8330974] Hb Alesha or alpha 2 beta (2)67(E11)Val-->Met: a new unstable hemoglobin variant identified through sequencing of amplified DNA.
[PMID 15646651] Hb Bristol-Alesha presenting thalassemia-type hyperunstable hemoglobinopathy.
