Table 3.

Genome-wide significant genes in the aggregated association analysis in TOPMed

Trait	Chr (GRCh38)	Start (GRCh38)	End (GRCh38)	Gene	No. of variants	MAC	p	pconditional1a	pconditional2b
HCT	11	5225464	5229395	HBB	15	76	1.27E−23	1.35E−23	5.91E−18
	11	5224309	5225461	AC104389.6	94	1,395	1.85E−13	6.23E−15	3.32E−11
HGB	11	5225464	5229395	HBB	15	76	2.06E−35	8.99E−30	7.44E−29
	11	5224309	5225461	AC104389.6	94	1,394	1.29E−18	2.43E−17	1.05E−23
MCH	11	5224309	5225461	AC104389.6	83	1,078	6.76E−100	2.87E−104	5.51E−95
	11	5225464	5229395	HBB	34	126	9.53E−76	2.76E−78	3.11E−75
	11	5224448	5224639	RF00621	588	12,096	1.93E−20	4.02E−20	1.28E−12
	11	5544489	5548533	OR52H1	8	441	6.15E−16	6.13E−17	9.82E−18
	11	5248079	5249859	HBG1	526	7,852	9.95E−09	8.61E−9	8.36E−4
	16	176680	177522	HBA1	16	30	4.97E−6	5.95E−9	1.98E−9
	22	37065436	37109713	TMPRSS6	243	3,317	6.77E−07	9.92E−12	1.16E−9
	X	154531391	154547572	G6PD	59	599	2.32E−06	6.59E−7	2.50E−7
MCHC	11	5224309	5225461	AC104389.6	88	1,225	2.37E−64	5.01E−40	8.73E−39
	11	5225464	5229395	HBB	36	136	4.07E−34	1.04E−33	2.65E−31
	11	5544489	5548533	OR52H1	8	502	3.88E−07	2.12E−6	7.50E−7
MCV	11	5224309	5225461	AC104389.6	86	1,148	2.29E−153	1.40E−148	4.75E−108
	11	5225464	5229395	HBB	35	130	4.10E−82	6.02E−86	1.11E−81
	11	5224448	5224639	RF00621	597	12,848	3.11E−37	1.56E−30	2.74E−16
	11	5544489	5548533	OR52H1	8	468	1.07E−19	3.29E−19	4.50E−22
	11	5248079	5249859	HBG1	546	8,321	4.46E−15	5.71E−8	1.79E−2
	16	176680	177522	HBA1	16	30	5.11E−4	2.03E−6	9.24E−7
	22	37065436	37109713	TMPRSS6	252	3,567	8.61E−06	9.11E−10	9.90E−8
	X	154531390	154547572	G6PD	82	732	2.19E−12	2.70E−13	7.06E−14
RBC	11	5224309	5225461	AC104389.6	81	1,036	9.51E−57	5.47E−60	2.55E−44
	11	5225464	5229395	HBB	34	113	2.24E−24	5.35E−28	6.06E−25
	11	5224448	5224639	RF00621	576	11,551	6.13E−15	7.39E−15	7.31E−7
	11	4803433	4804380	OR52R1	72	1,551	4.48E−09	1.87E−9	9.37E−2
	11	5248079	5249859	HBG1	517	7,502	2.74E−07	4.09E−8	3.49E−1
	X	154531390	154547572	G6PD	58	574	1.29E−06	2.99E−9	3.49E−8
RDW	7	80369575	80679277	CD36	178	1,537	3.28E−4	6.45E−7	2.46E−6
	11	5224309	5225461	AC104389.6	73	702	1.55E−29	1.19E−30	2.84E−24
	11	5225464	5229395	HBB	13	54	2.06E−24	9.07E−27	1.14E−24
	11	5544489	5548533	OR52H1	7	300	1.20E−08	4.55E−9	7.08E−9
	11	5224448	5224639	RF00621	480	8,119	1.80E−08	1.21E−8	2.01E−4
	22	37065436	37109713	TMPRSS6	72	614	2.89E−07	1.38E−7	4.86E−8
	X	154531390	154547572	G6PD	47	449	2.13E−24	6.71E−27	8.33E−21

Conditional analysis at the HBA1/2 locus was performed in a subset of TOPMed samples with available alpha-globin CNV data. Abbreviations are as follows: Chr, chromosome; MAC, minor allele counts; HCT, hematocrit; HGB, hemoglobin; MCH, mean corpuscular hemoglobin; MCHC, mean corpuscular hemoglobin concentration; MCV, mean corpuscular volume; RBC, red blood cell count; RDW, red blood cell width.

^aIn the first conditional analysis, trait-specific reported variants were adjusted in the model. All genes that reached genome-wide significance in the trait-specific conditional analysis were presented.

^bIn the second conditional analysis, all reported variants regardless of associated traits were adjusted in the model.