rs41469945
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Alpha-thalassemia allele carrier |
| (T;T) | 0 | common in complete genomics |
| Make rs41469945(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173581 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41469945 |
| dbSNP (classic) | rs41469945 |
| ClinGen | rs41469945 |
| ebi | rs41469945 |
| HLI | rs41469945 |
| Exac | rs41469945 |
| Gnomad | rs41469945 |
| Varsome | rs41469945 |
| LitVar | rs41469945 |
| Map | rs41469945 |
| PheGenI | rs41469945 |
| Biobank | rs41469945 |
| 1000 genomes | rs41469945 |
| hgdp | rs41469945 |
| ensembl | rs41469945 |
| geneview | rs41469945 |
| scholar | rs41469945 |
| rs41469945 | |
| pharmgkb | rs41469945 |
| gwascentral | rs41469945 |
| openSNP | rs41469945 |
| 23andMe | rs41469945 |
| SNPshot | rs41469945 |
| SNPdbe | rs41469945 |
| MSV3d | rs41469945 |
| GWAS Ctlg | rs41469945 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs41469945(C;C) rs41469945(G;G) |
| Alt | rs41469945(C;C) rs41469945(G;G) |
| Reference | Rs41469945(T;T) |
| Significance | Pathogenic |
| Disease | Heinz body anemia |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | Heinz body anemia |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223580T>C |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000203221.2, |
[PMID 5440849] Subunit dissociation of the unstable hemoglobin Bibba (alpha 2-136Pro(H19)beta 2).
[PMID 5639009] Hemoglobin-Bibba or alpha-2-136Pro-beta 2, an unstable alpha chain abnormal hemoglobin.
[PMID 7558871] Hb Bibba or alpha 2 136(H19)Leu-->Pro beta 2 in a Caucasian family from Alabama.
[PMID 2833478] Hyperunstable hemoglobin Toyama [alpha 2 136(H19)Leu----Arg beta 2]: detection and identification by in vitro biosynthesis with radioactive amino acids.
