rs34012192
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs34012192(C;C) |
| Make rs34012192(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5234385 |
| Gene | HBD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34012192 |
| dbSNP (classic) | rs34012192 |
| ClinGen | rs34012192 |
| ebi | rs34012192 |
| HLI | rs34012192 |
| Exac | rs34012192 |
| Gnomad | rs34012192 |
| Varsome | rs34012192 |
| LitVar | rs34012192 |
| Map | rs34012192 |
| PheGenI | rs34012192 |
| Biobank | rs34012192 |
| 1000 genomes | rs34012192 |
| hgdp | rs34012192 |
| ensembl | rs34012192 |
| geneview | rs34012192 |
| scholar | rs34012192 |
| rs34012192 | |
| pharmgkb | rs34012192 |
| gwascentral | rs34012192 |
| openSNP | rs34012192 |
| 23andMe | rs34012192 |
| SNPshot | rs34012192 |
| SNPdbe | rs34012192 |
| MSV3d | rs34012192 |
| GWAS Ctlg | rs34012192 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34012192(C;C) |
| Alt | rs34012192(C;C) |
| Reference | Rs34012192(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN A(2)-PRIME HEMOGLOBIN B(2) |
| Variation | info |
| Gene | HBD |
| CLNDBN | HEMOGLOBIN A(2)-PRIME HEMOGLOBIN B(2) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5255615C>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016186.1, RCV000016187.1, |
[PMID 1698102] Observations on the levels of Hb A2 in patients with different beta-thalassemia mutations and a delta chain variant.
[PMID 5956309] Haemoglobin A2: alpha-2-delta-2-16 glycine--arginine.
[PMID 6058951] Structural characterization of two delta chain variants. Hemoglobin A'-2 (B2) and hemoglobin Flatbush.
