Table 2.

Pathogenic HBB mutations in Pomak and MANOLIS and their associations with red cell distribution width.

Mutation	rs-id	Consequence	type	Position	Allele frequency	N carriers	Beta*	SE	P-value*
Pomak (N = 1617)
HbO-Arab c.364G>A (p.Glu122Lys)	rs33946267	Missense	HbO	5,225,678	0.044	139	− 1.35	0.085	1.3 × 10–51
IVS-II-745c.316-106C> G	rs34690599	Splice site	β +	5,225,832	0.004	14	− 2.79	0.291	4.7 × 10–21
IVS-I-110 c.93-21G>A	rs35004220	Splice site	β +	5,226,820	0.0003	1	− 2.59	0.949	0.006
IVS-I-6 c.92 + 6T>C	rs35724775	Splice site	β +	5,226,924	0.002	7	− 1.99	0.383	2.3 × 10–7
IVS-I-1 c.92+1G>A	rs33971440	Splice donor	β0	5,226,929	0.0003	1	− 2.39	0.968	0.014
IVS-I (-1) c.92G>A (p.Arg31Lys)	rs33960103	Missense	β0	5,226,930	0.0003	1	− 2.40	0.908	0.008
MANOLIS (N = 1457)
IVS-II-848 c.316-3C>A	rs33913413	Splice site	β +	5,225,729	0.0003	1	− 2.12	0.991	0.033
CD39 c.118C>T (p.Gln40Ter)	rs11549407	Stop gained	β0	5,226,774	0.005	13	− 2.06	0.285	7.4 × 10–13
IVS-I-110 c.93-21G>A	rs35004220	splice site	β +	5,226,820	0.015	44	− 2.16	0.166	3.2 × 10–36
IVS-I-6 c.92 + 6T>C	rs35724775	splice site	β +	5,226,924	0.001	3	− 1.40	0.562	0.013
CD8/9 + G c.27dupG (p.Ser10Valfs*14)	rs35699606	frameshift	β0	5,226,995	0.009	23	− 2.35	0.247	1.1 × 10–20
c.20A>T (p.Glu7Val)	rs334	missense	HbS	5,227,002	0.004	15	− 0.79	0.342	0.021

* Regression coefficient beta and p value for the association of the variant with red cell distribution width in units of standard deviation.