rs41466346
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs41466346(C;G) |
| Make rs41466346(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173270 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41466346 |
| dbSNP (classic) | rs41466346 |
| ClinGen | rs41466346 |
| ebi | rs41466346 |
| HLI | rs41466346 |
| Exac | rs41466346 |
| Gnomad | rs41466346 |
| Varsome | rs41466346 |
| LitVar | rs41466346 |
| Map | rs41466346 |
| PheGenI | rs41466346 |
| Biobank | rs41466346 |
| 1000 genomes | rs41466346 |
| hgdp | rs41466346 |
| ensembl | rs41466346 |
| geneview | rs41466346 |
| scholar | rs41466346 |
| rs41466346 | |
| pharmgkb | rs41466346 |
| gwascentral | rs41466346 |
| openSNP | rs41466346 |
| 23andMe | rs41466346 |
| SNPshot | rs41466346 |
| SNPdbe | rs41466346 |
| MSV3d | rs41466346 |
| GWAS Ctlg | rs41466346 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41466346(G;G) |
| Alt | rs41466346(G;G) |
| Reference | Rs41466346(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN CONAKRY |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN CONAKRY |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223269C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016946.1, |
[PMID 9886305] A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha2 globin gene variant (Hb Conakry).
