Table 3. Association summary of genome wide significant BCL11A SNPs from non-conditional and conditional regression analysis.
Non-conditional | conditional | |||||||||
rs1427407 | rs6545816 | |||||||||
Chr | SNP | BP | ref allele | alt allele | β-value | P-value | β-value | P-value | β-value | P-value |
2 | rs58955256 | 60583070 | A | G | −0.10 | 6.95×10 | −0.11 | 1.07×10 | −0.09 | 1.52×10 |
2 | rs6545816 | 60714861 | A | C | 0.01 | 0.58 | 0.14 | 2.55×10−15 | – | – |
2 | rs1427407 | 60718043 | T | G | −0.30 | 3.74×10−53 | – | – | – | – |
Abbreviations: Chr: chromosome, SNP: single nucleotide polymorphism, ref allele: ancestral allele, alt allele: alternative allele, β-value (Beta estimate): the effect that a change in single allele has on HbF,-β indicate a decreasing effect. Chromosomal position (BP) given here uses hg19 co-ordinates.