HBG1, hemoglobin subunit gamma 1, 3047

N. diseases: 65; N. variants: 8
Disease: beta^0^ Thalassemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1061234
rs1061234
Entrez Id: 3047
Gene Symbol: HBG1
HBG1
CUI: C0271980
Disease:
beta^0^ Thalassemia 		0.010 GeneticVariation BEFREE The beta(0)-thalassemia with a nonsense mutation at codon 39 was found on two chromosomes, each with a distinct pattern of polymorphic restriction sites; one had the A gamma T (A gamma 75 Ile----Thr) mutation, while the second did not. 3778425 1986