Table 2.

High-HbF associated SNPs identified by the case-control analysis

CHR	Gene	SNP ID	Base position*	A1/A2	Allele frequency (Case)	Allele frequency (Control)	Chi square	P value
2	BCL11A	rs1896295	60577590	A/G	0.375	0.1306	37.12	1.11E-09
2		rs4671393	60574455	A/G	0.3788	0.1343	36.15	1.83E-09
2		rs6706648	60575544	AG	0.2895	0.5495	33.89	5.82E-09
2		rs766432	60573474	C/A	0.3759	0.1441	32.95	9.46E-09
2		rs1427407	60571547	A/C	0.3421	0.1216	32.09	1.48E-08
2		rs6738440	60575745	G/A	0.1955	0.4279	31.06	2.50E-08
2		rs45606437	60576613	A/C	0.2444	0.4865	31	2.58E-08
2		rs7584113	60574815	A/G	0.4135	0.1847	29.66	5.15E-08
2		rs7557939	60574851	G/A	0.4135	0.1847	29.66	5.15E-08
2		rs10195871	60574093	A/G	0.4173	0.1892	29.25	6.35E-08
2		rs10172646	60574261	G/A	0.4173	0.1892	29.25	6.35E-08
2		rs11886868	60573750	G/A	0.3947	0.1802	26.67	2.41E-07
2		rs1896294	60572578	G/A	0.3947	0.1818	26.08	3.28E-07
2		rs6709302	60581133	A/G	0.2632	0.4775	24.11	9.12E-07
5	SPARC	rs7719521	151029597	A/C	0.1241	0.3198	27.65	1.45E-07
5		rs725937	151036904	A/G	0.188	0.3964	25.92	3.56E-07
5		rs6874468	151035888	A/G	0.02632	0.1532	25.3	4.92E-07
17	GJC1	rs1122109	40240064	A/C	0.2348	0.07798	21.44	3.65E-06
17		rs2108393	40236279	A/G	0.3308	0.1545	19.9	8.15E-06
17	EFTUD2	rs16971033	40288000	G/A	0.2481	0.09091	20.43	6.17E-06
17		rs2289673	40285496	A/G	0.2481	0.09091	20.43	6.17E-06
17		rs2304986	40283580	A/G	0.2727	0.1091	20.21	6.95E-06
15	Intergenic	rs776717	40188944	G/A	0.1203	0.2883	21.61	3.34E-06
9	Intergenic	rs1339144	23208009	A/G	0.5337	0.3	21.55	3.44E-06
7	JAZF1	rs740127	28004900	A/G	0.2744	0.1171	18.52	1.68E-06

HbF, fetal hemoglobin; SNP, single nucleotide polymorphism; A1/A2, allele 1/allele 2.

^*hg18 genome coordinates.