Table 2.

Top Associations with Emphysema in 30-kb Region–based Whole-Genome Scan and Any Genes in the Regions Identified

Chromosome	Start	End	Fraction of Population with Rare*	Unique Rare†	Unique Singletons‡	P Value	Gene(s) in Region
19	53430000	53459999	0.55814	79	62	4.51 × 10−6	ZNF816, ZNF321P
12	96300000	96329999	0.37209	33	18	1.84 × 10−5	CCDC38
19	33810000	33839999	0.36434	43	34	1.97 × 10−5	—
8	42060000	42089999	0.45736	67	48	3.74 × 10−5	PLAT
8	19560000	19589999	0.62791	77	51	4.56 × 10−5	CSGALNACT1
11	104400000	104429999	0.51938	66	47	7.26 × 10−5	—
4	136500000	136529999	0.57364	62	44	7.88 × 10−5	—
7	45630000	45659999	0.51163	66	41	8.28 × 10−5	ADCY1
4	128040000	128069999	0.44961	50	40	8.30 × 10−5	—
1	151350000	151379999	0.3876	44	32	8.53 × 10−5	PSMB4, POGZ

^*Fraction of entire population (129 individuals) that harbors at least one rare variant.

^†Number of unique variants that passed filtering in this region.

^‡Number of unique variants that only occurred once in either subcohort of this population.