Table 4b:

Rare variant burden tests for previously implicated IPF susceptibility loci

Gene	MUC5B+ IPF Freq	MUC5B− IPF Freq	N SNPs	OR [95% CI]	P	All IPF Freq	Control Freq	N SNPs	OR [95% CI]	P
AKAP13	0⋅002	0⋅000	2	N/A	0⋅89	0⋅001	0⋅003	7	0⋅37 [0⋅04, 2⋅55]	0⋅32
ATP11A	0⋅015	0⋅011	14	1⋅27 [0⋅49, 3⋅94]	0⋅65	0⋅014	0⋅014	26	0⋅95 [0⋅46, 1⋅96]	0⋅90
AZGP1P1	N/A	N/A	0	N/A	N/A	N/A	N/A	0	N/A	N/A
BAHD1	0⋅007	0⋅002	9	2⋅46 [0⋅43, 46⋅21]	0⋅40	0⋅005	0⋅004	14	2⋅48 [0⋅57, 11⋅29]	0⋅23
DPP9	0⋅016	0⋅011	4	1–54 [0⋅59, 4⋅78]	0⋅41	0⋅015	0⋅007	8	1–53 [0⋅65, 3–72]	0⋅34
DSP	0⋅023	0⋅026	20	0⋅83 [0⋅41, 1⋅76]	0⋅61	0⋅024	0⋅035	47	0⋅79 [0⋅46, 1⋅33]	0⋅37
FAM13A	0⋅003	0⋅009	6	0–26 [0⋅05, 1⋅19]	0⋅08	0⋅005	0⋅004	14	1⋅13 (0⋅27, 4⋅79]	0⋅87
IVD	0⋅011	0⋅013	7	0–72 [0⋅26, 2⋅52]	0⋅54	0⋅011	0⋅006	7	1–22 [0⋅36, 3·13]	0⋅70
LRRC34	0⋅005	0⋅009	8	0⋅53 [0⋅14, 2⋅18]	0⋅35	0⋅006	0⋅004	10	2⋅00 [0⋅58, 6⋅95]	0⋅27
MAPT	N/A	N/A	0	N/A	N/A	N/A	N/A	0	N/A	N/A
MUC5B	0⋅038	0⋅052	28	0⋅69 [0⋅41, 1⋅19]	0⋅18	0⋅065	0⋅066	63	0⋅83 [0⋅57, 1⋅2]	0⋅30
OBFC1	0⋅001	0⋅000	1	N/A	0⋅89	0⋅001	0⋅001	2	0–67 [0⋅02, 28⋅59]	0⋅83
PARN	0⋅009	0⋅019	17	0⋅45 [0⋅17, 1⋅16]	0⋅09	0⋅012	0⋅001	19	8⋅74 [2⋅16, 59⋅65]	0⋅007
RTEL1	0⋅028	0⋅037	31	0⋅8 [0⋅43, 1⋅53]	0⋅49	0⋅030	0⋅018	47	2⋅88 [1⋅59, 5⋅29]	5⋅44 × −4
SFTPA1	0⋅003	0⋅000	1	N/A	0⋅91	0⋅002	0⋅001	1	2⋅26 [0⋅29, 21⋅9]	0⋅44
SFTPA2	0⋅000	0⋅004	1	N/A	0⋅88	0⋅001	0⋅001	1	0⋅42 [0⋅04, 4⋅75]	0⋅45
SFTPC	0⋅004	0⋅002	3	3⋅11 [0⋅43, 62⋅95]	0⋅32	0⋅003	0⋅004	4	1⋅71 [0⋅44, 6⋅31]	0⋅43
TERC	0⋅008	0⋅009	22	0⋅81 [0⋅26, 2⋅73]	0⋅71	0⋅008	0⋅002	22	4⋅27 [1⋅3, 16⋅64]	0⋅042
TERT	0⋅029	0⋅073	39	0⋅4 [0⋅24, 0⋅66]	3⋅9 × 10 −4	0⋅042	0⋅017	41	2⋅82 [1⋅64, 4⋅97]	2⋅38 × 10 −4
TOLLIP	0⋅004	0⋅000	5	N/A	0⋅90	0⋅003	0⋅004	11	1⋅14 [0⋅21, 5⋅61]	0⋅87
ZKSCAN1	0⋅013	0⋅011	2	1⋅22 [0⋅46, 3⋅83]	0⋅71	0⋅013	0⋅022	4	0⋅67 [0⋅32, 1⋅36]	0⋅28