Table 4.

Increase in PKD1 case enrichment with MTR and LIMBR intolerance filters

Gene Name	Subgroup	Model Name	Exome-Wide Rank	Qualified Case Frequency	Qualified Control Frequency	Enriched Direction	OR	P Value	95% CI Lower	95% CI Upper
PKD1	AURORA only	(Dominant) rare missense	6	0.0965	0.0668	Case	1.49	4.73×10−04	1.20	1.85
PKD1	AURORA only	(Dominant) rare missense LIMBR50	1	0.0902	0.0601	Case	1.55	1.95×10−04	1.24	1.93
PKD1	AURORA only	(Dominant) rare missense MTR50	2	0.0631	0.032	Case	2.04	1.06×10−06	1.56	2.66
PKD1	All samples	(Dominant) rare missense	309	0.0797	0.0669	Case	1.21	0.0158	1.04	1.41
PKD1	All samples	(Dominant) rare missense LIMBR50	102	0.0737	0.0602	Case	1.24	0.009	1.06	1.45
PKD1	All samples	(Dominant) rare missense MTR50	14	0.0454	0.0318	Case	1.45	4.35×10−04	1.18	1.77
PKD1	CUMC only	(Dominant) rare missense	9321	0.0701	0.0669	Case	1.05	0.5932	0.87	1.27
PKD1	CUMC only	(Dominant) rare missense LIMBR50	5600	0.0642	0.0602	Case	1.07	0.5075	0.88	1.30
PKD1	CUMC only	(Dominant) rare missense MTR50	5997	0.0358	0.0323	Case	1.11	0.4129	0.86	1.44