Table 1 Selected BCL11A and HBS1L-MYB intergenic region SNPs

BCL11A

rs11886868

NC_000002.11:g.60720246C>T

African Americans SCD (Cooperative Study of Sickle Cell Disease (CSSCD)) [12], Brazil SCD [12], Sardinians [24], French β-thalassaemia [25]

rs4671393

NC_000002.11:g.60720951A>G

African Americans SCD (CSSCD) [11, 12], Brazil SCD [12], North Europeans [10], Chinese β-thalassaemia [26]

rs7557939

NC_000002.11:g.60721347G>A

African Americans SCD (CSSCD) [12], Brazil SCD [12]

rs6732518

NC_000002.11:g.60708597C>T

North Europeans [10], African Americans SCD (CSSCD) [27], Africans SCD (Silent Infarct Transfusion (SIT) Trial) [28], Thai β-thalassaemia heterozygotes or HbE heterozygotes [27], African Americans SCD [29], Hong Kong β-thalassaemia heterozygotes [27]

rs10189857

NC_000002.11:g.60713235A>G

African Americans SCD (CSSCD) [11], Sardinians β⁰-thalassaemia [30]

rs6545816

NC_000002.11:g.60714861A>C

Thai and Thai-Chinese β⁰-thalassaemia/HbE [31], Thai β-thalassaemia heterozygotes or HbE heterozygote [29]

rs7599488

NC_000002.11:g.60718347C>T

African Americans SCD (CSSCD) [11]

rs1427407

NC_000002.11:g.60718043T>G

North Europeans [10], Sardinians β⁰-thalassaemia [30]

rs766432

NC_000002.11:g.60719970C>A

North Europeans [10], Chinese (Hong Kong) β-thalassaemia heterozygotes [29, 32], Thai and Thai-Chinese β⁰-thalassaemia/HbE [31], Chinese β-thalassaemia [26], Thai β-thalassaemia heterozygotes or HbE heterozygotes [27], Hong Kong β-thalassaemia heterozygotes [27], African Americans SCD (CSSCD) [27], Africans SCD (SIT Trial) [28], African Americans SCD [29]

rs10184550

NC_000002.11:g.60729294G>A

African Americans SCD [29]

rs7606173

NC_000002.11:g.60725451G>C

Africans SCD (SIT Trial) [28]

rs6706648

NC_000002.11:g.60722040C>T

Africans SCD (SIT Trial) [28]

HBS1L-MYB

rs28384513

NC_000006.11:g.135376209T>G

African Americans SCD (CSSCD) [11, 12], Brazil SCD [12]

rs7776054

NC_000006.11:g.135418916A>G

African Americans SCD (CSSCD) [12], Brazil SCD [12]

rs9399137

NC_000006.11:g.135419018T>C

African Americans SCD (CSSCD) [12], Brazil SCD [12], North Europeans [9, 10, 33], Sardinians β⁰-thalassaemia [30],Thai and Thai-Chinese β⁰-thalassaemia/HbE [31], French β-thalassaemia [25], Chinese (Hong Kong) β-thalassaemia heterozygotes [32], Africans SCD (SIT Trial) [28]

rs9389268

NC_000006.11:g.135419631A>G

African Americans SCD (CSSCD) [12], Brazil SCD [12]

rs4895441

NC_000006.11:g.135426573A>G

African Americans SCD (CSSCD) [12], Brazil SCD [12], Sardinians [24], Sardinians β⁰-thalassaemia [30], Thai and Thai-Chinese β⁰-thalassaemia/HbE [31], North Europeans [9], Chinese β-thalassaemia [26], Africans SCD (SIT Trial) [28], Chinese β-thalassaemia heterozygotes [13]

rs6929404

NC_000006.11:g.135454027C>A

North Europeans [9, 33]

rs9402686

NC_000006.11:g.135427817G>A

African Americans SCD (CSSCD) [11], North Europeans [9], Chinese β-thalassaemia [26]

rs1320963

NC_000006.11:g.135443212A>G

North Europeans [10]

rs6904897

NC_000006.11:g.135382980T>G

North Europeans [10], Sardinians β⁰-thalassaemia [30]

rs35959442

NC_000006.11:g.135424179C>G

Chinese β-thalassaemia [26]

rs9376090

NC_000006.11:g.135411228T>C

North Europeans [9], Chinese β-thalassaemia [26]

rs4895440

NC_000006.11:g.135426558A>T

North Europeans [9], Chinese β-thalassaemia [26]

rs9494142

NC_000006.11:g.135431640T>C

Chinese β-thalassaemia [26]

rs9402685

NC_000006.11:g.135419688T>C

North Europeans [9], Chinese β-thalassaemia [26]

rs11759553

NC_000006.11:g.135422296A>T

North Europeans [9], Chinese β-thalassaemia [26]

rs6934903

NC_000006.11:g.135451564T>A

Chinese β-thalassaemia heterozygotes [13]