01
At a glance
Association overview
02
Provenance
Evidence and sources
03
LOC106099062
The gene
04
Beta-Thalassemia Major
The disorder
05
Phenotype
Clinical features
06
ClinVar and variant evidence
Genetic basis
08
Provenance
The association between LOC106099062 (HBB Recombination Region) and Beta-Thalassemia Major is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.