rs34814612
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs34814612(C;G) |
| Make rs34814612(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177118 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34814612 |
| dbSNP (classic) | rs34814612 |
| ClinGen | rs34814612 |
| ebi | rs34814612 |
| HLI | rs34814612 |
| Exac | rs34814612 |
| Gnomad | rs34814612 |
| Varsome | rs34814612 |
| LitVar | rs34814612 |
| Map | rs34814612 |
| PheGenI | rs34814612 |
| Biobank | rs34814612 |
| 1000 genomes | rs34814612 |
| hgdp | rs34814612 |
| ensembl | rs34814612 |
| geneview | rs34814612 |
| scholar | rs34814612 |
| rs34814612 | |
| pharmgkb | rs34814612 |
| gwascentral | rs34814612 |
| openSNP | rs34814612 |
| 23andMe | rs34814612 |
| SNPshot | rs34814612 |
| SNPdbe | rs34814612 |
| MSV3d | rs34814612 |
| GWAS Ctlg | rs34814612 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34814612(G;G) |
| Alt | rs34814612(G;G) |
| Reference | Rs34814612(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN ROANNE |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN ROANNE |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227117C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017209.2, |
[PMID 7811728] Hemoglobin Roanne [alpha 94(G1) Asp-->Glu]: a variant of the alpha 1 beta 2 interface with an unexpected high oxygen affinity.
