rs41341344
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Alpha-thalassemia allele carrier |
| (T;T) | 0 | common in complete genomics |
| Make rs41341344(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173001 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41341344 |
| dbSNP (classic) | rs41341344 |
| ClinGen | rs41341344 |
| ebi | rs41341344 |
| HLI | rs41341344 |
| Exac | rs41341344 |
| Gnomad | rs41341344 |
| Varsome | rs41341344 |
| LitVar | rs41341344 |
| Map | rs41341344 |
| PheGenI | rs41341344 |
| Biobank | rs41341344 |
| 1000 genomes | rs41341344 |
| hgdp | rs41341344 |
| ensembl | rs41341344 |
| geneview | rs41341344 |
| scholar | rs41341344 |
| rs41341344 | |
| pharmgkb | rs41341344 |
| gwascentral | rs41341344 |
| openSNP | rs41341344 |
| 23andMe | rs41341344 |
| SNPshot | rs41341344 |
| SNPdbe | rs41341344 |
| MSV3d | rs41341344 |
| GWAS Ctlg | rs41341344 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs41341344(C;C) |
| Alt | rs41341344(C;C) |
| Reference | Rs41341344(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN AGRINIO Hemoglobin H disease |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN AGRINIO Hemoglobin H disease, nondeletional |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223000T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016937.1, RCV000022605.4, |
[PMID 8136277] A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia.
[PMID 8537235] Hb A2-Agrinio [delta 43(CD2)Glu-->Gly(GAG-->GGG)]: a new delta chain variant detected in a Greek family.
[PMID 9629496] An alpha-thalassemic hemoglobinopathy: homozygosity for the HB Agrinio alpha 2-globin chain variant.
[PMID 11042028] Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies.
