rs34095019
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs34095019(C;C) |
| Make rs34095019(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225642 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34095019 |
| dbSNP (classic) | rs34095019 |
| ClinGen | rs34095019 |
| ebi | rs34095019 |
| HLI | rs34095019 |
| Exac | rs34095019 |
| Gnomad | rs34095019 |
| Varsome | rs34095019 |
| LitVar | rs34095019 |
| Map | rs34095019 |
| PheGenI | rs34095019 |
| Biobank | rs34095019 |
| 1000 genomes | rs34095019 |
| hgdp | rs34095019 |
| ensembl | rs34095019 |
| geneview | rs34095019 |
| scholar | rs34095019 |
| rs34095019 | |
| pharmgkb | rs34095019 |
| gwascentral | rs34095019 |
| openSNP | rs34095019 |
| 23andMe | rs34095019 |
| SNPshot | rs34095019 |
| SNPdbe | rs34095019 |
| MSV3d | rs34095019 |
| GWAS Ctlg | rs34095019 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34095019(A;A) rs34095019(C;C) |
| Alt | rs34095019(A;A) rs34095019(C;C) |
| Reference | Rs34095019(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN EXTREMADURA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN EXTREMADURA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246872C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016335.2, |
[PMID 2599886] Hb Extremadura or alpha 2 beta 2133 (H11)Val----Leu, a new mildly unstable hemoglobin in a Spanish female.
