HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs33950507
rs33950507
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C3841475
Disease:
beta^+^ Thalassemia
0.710 GeneticVariation BEFREE β-Thalassaemia mutations included CD17 (HBB:c.52A>T) and CD26 (HbE or HBB:c.79G>A). 26715484 2015
dbSNP: rs33950507
rs33950507
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C3841475
Disease:
beta^+^ Thalassemia
T 0.710 CausalMutation CLINVAR