rs11548605
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (G;G) | 0 | common in complete genomics |
| Make rs11548605(A;A) |
| Make rs11548605(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176781 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11548605 |
| dbSNP (classic) | rs11548605 |
| ClinGen | rs11548605 |
| ebi | rs11548605 |
| HLI | rs11548605 |
| Exac | rs11548605 |
| Gnomad | rs11548605 |
| Varsome | rs11548605 |
| LitVar | rs11548605 |
| Map | rs11548605 |
| PheGenI | rs11548605 |
| Biobank | rs11548605 |
| 1000 genomes | rs11548605 |
| hgdp | rs11548605 |
| ensembl | rs11548605 |
| geneview | rs11548605 |
| scholar | rs11548605 |
| rs11548605 | |
| pharmgkb | rs11548605 |
| gwascentral | rs11548605 |
| openSNP | rs11548605 |
| 23andMe | rs11548605 |
| SNPshot | rs11548605 |
| SNPdbe | rs11548605 |
| MSV3d | rs11548605 |
| GWAS Ctlg | rs11548605 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs11548605(A;A) rs11548605(T;T) |
| Alt | rs11548605(A;A) rs11548605(T;T) |
| Reference | Rs11548605(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN J (NYANZA) |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN J (NYANZA) |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226780C>A |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017067.2, |
[PMID 4719146] Haemoglobin J Nyanza: 21 (B2) Ala-Asp.
