Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912748
rs121912748
SLC4A1
0.020 GeneticVariation BEFREE A patient with compound heterozygous SAO/G701D and heterozygous alpha(+)-thalassemia presented with hemolytic anemia and hepatosplenomegaly which was alleviated by alkaline therapy. 18266205

2008
dbSNP: rs121912748
rs121912748
SLC4A1
0.020 GeneticVariation BEFREE A patient with compound heterozygous Southeast Asian ovalocytosis/G701D and heterozygous alpha(+)-thalassemia showed severe hemolytic anemia. 17533027

2007