rs1222838633, GGCT

N. diseases: 1
Disease: beta^0^ Thalassemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
beta^0^ Thalassemia
CUI: C0271980
Disease: beta^0^ Thalassemia
0.010 GeneticVariation BEFREE DNA sequencing of the beta globin gene confirmed a GGC to a GAC mutation at codon 29 (gly to asp) for Hb Lufkin on the patient and also revealed a beta(0) thalassemia mutation, IVS-1-1 (G to A), on both the patient and his mother. 19346882 2009