rs34863047
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs34863047(A;A) |
| Make rs34863047(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177316 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34863047 |
| dbSNP (classic) | rs34863047 |
| ClinGen | rs34863047 |
| ebi | rs34863047 |
| HLI | rs34863047 |
| Exac | rs34863047 |
| Gnomad | rs34863047 |
| Varsome | rs34863047 |
| LitVar | rs34863047 |
| Map | rs34863047 |
| PheGenI | rs34863047 |
| Biobank | rs34863047 |
| 1000 genomes | rs34863047 |
| hgdp | rs34863047 |
| ensembl | rs34863047 |
| geneview | rs34863047 |
| scholar | rs34863047 |
| rs34863047 | |
| pharmgkb | rs34863047 |
| gwascentral | rs34863047 |
| openSNP | rs34863047 |
| 23andMe | rs34863047 |
| SNPshot | rs34863047 |
| SNPdbe | rs34863047 |
| MSV3d | rs34863047 |
| GWAS Ctlg | rs34863047 |
| Merged from | Rs63749808 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34863047(A;A) |
| Alt | rs34863047(A;A) |
| Reference | Rs34863047(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN MOSELLA |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN MOSELLA |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227315G>A |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000017214.2, |
[PMID 8537232] Three new neutral alpha chain variants: Hb Bois Guillaume [alpha 65(E14(Ala-->Val], Hb Mantes-la-Jolie [alpha 79(EF8)Ala-Thr], and Hb Mosella [alpha 111(G18)Ala-->Thr].
