Table 3:

Genetic variants of HKDC1 and their associations

							Refs
Hayes et al.	rs5030937	gravid 2HPG	1.02E-22	Hispanic (n=817), Afro-Caribbean (n=1075), Northern European (n=4393*),	7,463 pregnant women	2-h plasma glucose collected after OGTT at ~28 weeks gestation	[16]
	rs4746822	gravid 2HPG	6.30E-16	Thai (n=1,178)
Guo et al.	rs4746822	gravid 2HPG	4.41E-13	Africa, Americas, Asia, Europe	4,437 pregnant women from Hayes et al. cohort	2-h plasma glucose collected after OGTT at ~28 weeks gestation	[15]
	rs10762264		3.75E-12	(n unspecified)
	rs2394529		1.88E-12
	rs9645501		8.61E-06
Kanthimathi et al.	rs4746822 rs10762264	GDM	0.004 0.002	South Indian	500 pregnant women with GDM, 510 non-GDM	Plasma glucose values exceed: fasting ≥5.1 mmol/L, 1-h ≥ 10.0 mmol/L and 2-h ≥ 8.5 mmol/L, following OGTT during pregnancy	[22]
	rs2394529		0.020
	rs9645501		0.059
Tan et al.	rs4746822	gravid 2HPG	0.016	Han Chinese	334 pregnant women, 367 controls	Plasma glucose values exceed: fasting ≥5.1 mmol/L, 1-h ≥ 10.0 mmol/L and 2-h ≥ 8.5 mmol/L, following OGTT during 24– 28 weeks gestation	[23]
Karolak et al.	rs202105269	Keratoconus	N/A**	Ecuadorian	8 family members	Based on visual acuity testing, intraocular pressure assessment, biomicroscopic evaluation, and fundus examination with dilation.	[24]
Zhang et al.	rs3740598	Retinitis pigmentosa	N/A**	Unknown	Two unrelated probands	Loss of vision, fundus photographic and angiographic changes	[25]
	rs3740600
Neale et al.	rs902619	ADHD	3.73E-05	Predominantly European/American	1,150 participants	DSM-IV criteria for ADHD	[27]

^*Includes external replication analysis

^**WES analysis, no P value