rs34029390

This variant is located in the HBB gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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ClinVar annotation

Conflicting Classifications
9 submitters16 publications

beta Thalassemia; not provided; HBB-related disorder

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Research that mentions this SNP (1)

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Molecular characterization of β-thalassemia in Czechoslovakia
Case reportN=93Karel Indrak et al.(1992)· Human Genetics

Molecular characterization of 8 different β-thalassemia mutations identified in 93 members of 34 Czech and Slovakian families. The most common mutation was IVS-I-1 (G→A) found in 52.9% of families, followed by other Mediterranean mutations including IVS-II-1 (G→A), codon 39 (C→T), and IVS-I-110 (G→A). A newly discovered frameshift at codons 38/39 (-C) and rare UTR mutation at position +96 (T→C) were also identified.

Traits studied:Hereditary persistence of fetal hemoglobinα-thalassemiaβ-thalassemia
DOIMetascience Observatory

About HBB

The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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