rs41491146
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs41491146(C;G) |
| Make rs41491146(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173161 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41491146 |
| dbSNP (classic) | rs41491146 |
| ClinGen | rs41491146 |
| ebi | rs41491146 |
| HLI | rs41491146 |
| Exac | rs41491146 |
| Gnomad | rs41491146 |
| Varsome | rs41491146 |
| LitVar | rs41491146 |
| Map | rs41491146 |
| PheGenI | rs41491146 |
| Biobank | rs41491146 |
| 1000 genomes | rs41491146 |
| hgdp | rs41491146 |
| ensembl | rs41491146 |
| geneview | rs41491146 |
| scholar | rs41491146 |
| rs41491146 | |
| pharmgkb | rs41491146 |
| gwascentral | rs41491146 |
| openSNP | rs41491146 |
| 23andMe | rs41491146 |
| SNPshot | rs41491146 |
| SNPdbe | rs41491146 |
| MSV3d | rs41491146 |
| GWAS Ctlg | rs41491146 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41491146(G;G) |
| Alt | rs41491146(G;G) |
| Reference | Rs41491146(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN HIROSAKI |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN HIROSAKI |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223160C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017048.1, |
[PMID 701086] Further studies on hemoglobin Hirosaki: demonstration of its presence at low concentration.
[PMID 1182166] Hemoglobin Hirosaki (alpha 43 [CE 1] Phe replaced by Leu), a new unstable variant.
[PMID 1954347] Further cases of Hb Hirosaki in two Japanese families.
