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Table 1 Selected BCL11A and HBS1L-MYB intergenic region SNPs

From: Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach

Ref SNP HGVS namea Origin of population (Cohort)
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]
  1. aHGVS Name: Human Genome Variation Society reference name (Reverse direction of the SNPs sequences for BCL11A gene).