rs41412046
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (A;T) | 3 | Alpha-thalassemia allele carrier |
| Make rs41412046(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173600 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41412046 |
| dbSNP (classic) | rs41412046 |
| ClinGen | rs41412046 |
| ebi | rs41412046 |
| HLI | rs41412046 |
| Exac | rs41412046 |
| Gnomad | rs41412046 |
| Varsome | rs41412046 |
| LitVar | rs41412046 |
| Map | rs41412046 |
| PheGenI | rs41412046 |
| Biobank | rs41412046 |
| 1000 genomes | rs41412046 |
| hgdp | rs41412046 |
| ensembl | rs41412046 |
| geneview | rs41412046 |
| scholar | rs41412046 |
| rs41412046 | |
| pharmgkb | rs41412046 |
| gwascentral | rs41412046 |
| openSNP | rs41412046 |
| 23andMe | rs41412046 |
| SNPshot | rs41412046 |
| SNPdbe | rs41412046 |
| MSV3d | rs41412046 |
| GWAS Ctlg | rs41412046 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs41412046(T;T) |
| Alt | rs41412046(T;T) |
| Reference | Rs41412046(A;A) |
| Significance | Pathogenic |
| Disease | Hemoglobin H disease |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | Hemoglobin H disease, nondeletional |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223599A>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016938.5, |
[PMID 7502632] Identification of several alpha-globin gene variations in a small Laotian family.
[PMID 8193381] Identification of a novel termination codon mutation (TAA-->TAT, Term-->Tyr) in the alpha 2 globin gene of a Laotian girl with hemoglobin H disease.
[PMID 11836160] Clinical phenotypes and molecular characterization of Hb H-Pakse disease.
[PMID 12403487] Hb Pakse [(alpha2) codon 142 (TAA-->TAT or Term-->Tyr)J in Thai patients with EAbart's disease and Hb H Disease.
