Table 2. Frequencies and statistical analysis of variant NEPH3-p.V353M in the various hematuric sub-cohorts, based on disease severity.

		Genotype counts			Genotype frequency			Allele counts		Allele frequency		Statistics
Cohort	N	VV	VM	MM	VV	VM	MM	V	M	V	M	“Mild” v. “Severe”a	“Mild” v. “Severe”b	Odds Ratio (Dominant model)
General population	462	437	25	0	0.946	0.054	0	899	25	0.973	0.027
ExAC Browser	54373	52712	1595	61	0.969	0.029	0.002	105434	3312	0.969	0.031
Mild
A	44	44	0	0	1.0	0	0	88	0	1.0	0
B	35	35	0	0	1.0	0	0	70	0	1.0	0
C	22	22	0	0	1.0	0	0	44	0	1.0	0
D	122	119	3	0	0.975	0.025	0	241	3	0.988	0.012
Total	223	220	3	0	0.987	0.013	0	443	3	0.993	0.007
Severe
A	59	53	6	0	0.898	0.102	0	112	6	0.949	0.051	c3.6x10-2
B	34	32	2	0	0.941	0.059	0	66	2	0.971	0.029
C	12	10	2	0	0.833	0.167	0	22	2	0.917	0.083
D	196	181	14	1	0.923	0.071	0.006	376	16	0.959	0.041
Total	301	276	24	1	0.917	0.080	0.003	576	26	0.957	0.043	c3.0x10-4	c2.0x10-4	6.64 (1.98, 22.29)
												d3.0x10-3	e4.2x10-3	d6.63 (1.94, 22.68)

The four sub-cohorts presented here comprise the larger HEMATURIA cohort. Description of sub-cohorts can be found in Table 1.

^a Genotypic association analysis p-values (dominant model);

^b Allelic association analysis p-values;

^c Fisher’s Exact Test (2-sided);

^d Adjusted for gender and age;

^e Adjusted for patients’ kinships