Table 1.

Lead variants that are protein coding within 26 disease-associated loci identified in the multi-biobank multi-ancestry meta-analyses in GBMI

Endpoint	CHR/POS (hg38)	REF/ALT	Freqa	Odds Ratio (95% CI)b	p	Heterogeneity p	Gene	Function	Cases	Controls	Number of biobanks
Novel
AAA	10:73913343	T/C	0.737	0.88 (0.85–0.91)	5.93 × 10−12	0.76	PLAU	missense	9,453	1,446,422	11
COPD	1:149934520	T/C	0.350	1.04 (1.03–1.05)	7.91 × 10−10	0.54	MTMR11	missense	79,844	1,289,683	15
Stroke	6:49492265	A/G	0.446	0.96 (0.94–0.97)	1.8 × 10−11	0.99	CENPQ	missense	60,176	1,310,725	16
Asthma	10:94279840	G/C	0.448	1.03 (1.02–1.03)	2.52 × 10−9	0.98	PLCE1	missense	153,763	1,647,022	18
Asthma	14:100883117	G/T	0.025	1.09 (1.05–1.12)	2.61 × 10−8	0.73	RTL1	missense	133,369	1,370,606	16
Asthma	19:56222056	C/A	0.253	1.03 (1.02–1.04)	2.35 × 10−8	0.60	ZSCAN5A	missense	149,293	1,626,581	17
Known
COPD	14:94378610	C/T	0.020	1.22 (1.16–1.29)	5.2 × 10−15	9.27 × 10−3	SERPINA1	missense	54,105	883,399	11
COPD	19:44908684	T/C	0.140	0.95 (0.94–0.97)	1.04 × 10−8	0.36	APOE	missense	81,568	1,310,798	16
Gout	2:27508073	T/C	0.588	0.87 (0.86–0.88)	9.27 × 10−64	0.11	GCKR	missense	37,105	1,448,128	15
Gout	11:64593747	G/A	0.016	0.36 (0.31–0.42)	1.19 × 10−41	0.10	SLC22A12	stop gain	6,634	248,305	2
Gout	12:57449928	G/A	0.194	0.91 (0.89–0.93)	1.51 × 10−17	0.45	INHBC	missense	37,105	1,448,128	15
IPF	5:1279370	T/C	0.001	862 (205–3618)	2.66 × 10−20	0.09	TERT	missense	1,278	330,954	2
IPF	5:169588475	G/A	0.014	2.19 (1.81–2.66)	1.61 × 10−15	0.02	SPDL1	missense	4,812	882,416	7
POAG	1:11193760	C/T	0.026	0.67 (0.6–0.74)	4.39 × 10−14	0.90	ANGPTL7	missense	12,810	421,360	5
POAG	1:171636338	G/A	0.002	6.33 (4.71–8.51)	1.67 × 10−34	4.33 × 10−6	MYOC	stop gain	15,916	1,092,446	11
POAG	14:60509819	C/A	0.547	0.89 (0.87–0.91)	7.08 × 10−30	0.31	SIX6	missense	26,848	1,460,599	15
Stroke	12:111803962	G/A	0.238	0.9 (0.88–0.92)	5.16 × 10−18	0.37	ALDH2	missense	23,804	269,656	4
VTE	1:169549811	C/T	0.020	3.04 (2.85–3.24)	1.5 × 10−245	5.52 × 10−13	F5	missense	26,749	1,011,509	9
VTE	12:6034818	T/C	0.889	1.1 (1.07–1.13)	1.59 × 10−10	0.21	VWF	missense	27,987	1,035,290	9
VTE	12:103742510	C/T	0.011	1.65 (1.45–1.88)	6.19 × 10−14	0.25	STAB2	missense	10,353	341,418	2
Asthma	1:12115601	G/A	0.012	0.85 (0.8–0.89)	1.7 × 10−11	0.46	TNFRSF8	missense	118,767	1,202,660	12
Asthma	1:31699894	G/T	0.573	1.03 (1.02–1.04)	1.61 × 10−10	0.49	COL16A1	missense	148,045	1,579,632	17
Asthma	4:38797027	C/A	0.387	0.95 (0.94–0.96)	4.21 × 10−21	0.54	TLR1	missense	138,764	1,458,022	15
Asthma	4:102267552	C/T	0.044	1.08 (1.06–1.1)	2.53 × 10−12	0.81	SLC39A8	missense	129,434	1,256,670	14
Asthma	5:14610200	C/G	0.084	1.07 (1.05–1.09)	7.68 × 10−15	0.16	OTULINL	missense	125,483	1,241,068	13
Asthma	9:128721272	T/A	0.068	0.95 (0.93–0.96)	5.61 × 10−10	0.21	ZDHHC12	missense	152,469	1,638,824	18

^aFrequencies are reported with respect to the alternate allele (ALT) in the combined meta-analysis datasets.

^bOdds ratios are reported with respect to the alternate allele (ALT) in the meta-analyses.