rs41328049
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs41328049(C;C) |
| Make rs41328049(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173207 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41328049 |
| dbSNP (classic) | rs41328049 |
| ClinGen | rs41328049 |
| ebi | rs41328049 |
| HLI | rs41328049 |
| Exac | rs41328049 |
| Gnomad | rs41328049 |
| Varsome | rs41328049 |
| LitVar | rs41328049 |
| Map | rs41328049 |
| PheGenI | rs41328049 |
| Biobank | rs41328049 |
| 1000 genomes | rs41328049 |
| hgdp | rs41328049 |
| ensembl | rs41328049 |
| geneview | rs41328049 |
| scholar | rs41328049 |
| rs41328049 | |
| pharmgkb | rs41328049 |
| gwascentral | rs41328049 |
| openSNP | rs41328049 |
| 23andMe | rs41328049 |
| SNPshot | rs41328049 |
| SNPdbe | rs41328049 |
| MSV3d | rs41328049 |
| GWAS Ctlg | rs41328049 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41328049(A;A) rs41328049(C;C) |
| Alt | rs41328049(A;A) rs41328049(C;C) |
| Reference | Rs41328049(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN ZURICH ALBISRIEDEN Alpha plus thalassemia |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN ZURICH ALBISRIEDEN Alpha plus thalassemia |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223206G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016978.2, RCV000016979.28, |
[PMID 15658192] A new highly unstable alpha chain variant causing alpha(+)-thalassemia: Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)].
