rs33962676
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33962676(A;A) |
| Make rs33962676(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226972 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33962676 |
| dbSNP (classic) | rs33962676 |
| ClinGen | rs33962676 |
| ebi | rs33962676 |
| HLI | rs33962676 |
| Exac | rs33962676 |
| Gnomad | rs33962676 |
| Varsome | rs33962676 |
| LitVar | rs33962676 |
| Map | rs33962676 |
| PheGenI | rs33962676 |
| Biobank | rs33962676 |
| 1000 genomes | rs33962676 |
| hgdp | rs33962676 |
| ensembl | rs33962676 |
| geneview | rs33962676 |
| scholar | rs33962676 |
| rs33962676 | |
| pharmgkb | rs33962676 |
| gwascentral | rs33962676 |
| openSNP | rs33962676 |
| 23andMe | rs33962676 |
| SNPshot | rs33962676 |
| SNPdbe | rs33962676 |
| MSV3d | rs33962676 |
| GWAS Ctlg | rs33962676 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33962676(A;A) |
| Alt | rs33962676(A;A) |
| Reference | Rs33962676(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN J (BALTIMORE) |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN J (BALTIMORE) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248202C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016400.7, |
[PMID 8226093] Rare beta chain hemoglobin variants found in Swedish patients during HBA1c analysis.
[PMID 8745435] Hb J-Baltimore [beta 16(A13)Gly-->Asp] associated with beta(+)-thalassemia in a Spanish family.
