Table 1.

Discovery, Replication, and Full GWAS Results for the Lead SNVs for Resting Tpe Interval

						Discovery					Replication					Combined
Locus	SNV	CHR	BP	EA	AA	EAF	β	SE	p	n	EAF	β	SE	p	n	EAF	β	SE	p	n
RNF207	rs10864434	1	6262231	A	T	0.602	−0.066	0.008	1.20E−15	28,511	0.600	−0.054	0.007	2.50E−14	39,789	0.601	−0.058	0.005	5.80E−28	68,658
SSBP3	rs603901	1	54741767	C	T	0.434	−0.059	0.008	3.80E−13	29,111	0.436	−0.040	0.007	7.30E−09	40,626	0.435	−0.049	0.005	5.70E−21	70,103
SGIP1	rs10789207	1	66991346	T	C	0.787	−0.065	0.010	2.30E−11	29,383	0.784	−0.043	0.008	1.50E−07	41,005	0.786	−0.054	0.006	7.50E−18	70,757
KCND3	rs116532272	1	112560237	G	A	0.986	0.133	0.036	1.90E−04	26,964	0.986	0.140	0.030	3.20E−06	37,629	0.986	0.140	0.023	9.10E−10	64,931
MEF2D	rs1050316	1	156434703	G	T	0.345	−0.070	0.008	1.30E−16	29,481	0.349	−0.055	0.007	1.40E−14	41,142	0.347	−0.061	0.005	9.40E−30	70,993
DPT†	rs607484	1	168687512	T	C	0.733	0.042	0.009	2.90E−06	29,624	0.734	0.024	0.008	1.90E−03	41,342	0.733	0.032	0.006	3.10E−08	71,338
STRN	rs3770774	2	37192495	T	C	0.518	−0.040	0.008	7.90E−07	29,310	0.520	−0.029	0.007	2.30E−05	40,903	0.519	−0.032	0.005	8.20E−10	70,581
SLC8A1	rs35450971	2	40754314	T	C	0.936	0.068	0.016	3.20E−05	29,231	0.935	0.056	0.014	4.60E−05	40,794	0.935	0.062	0.010	3.30E−09	70,392
SERTAD2	rs12466865	2	64882414	C	T	0.639	−0.029	0.008	6.00E−04	28,778	0.639	−0.042	0.007	4.80E−09	40,161	0.639	−0.037	0.005	7.70E−12	69,301
SCN5A-SCN10A†	rs7373065	3	38710315	T	C	0.020	−0.149	0.030	5.70E−07	27,547	0.019	−0.143	0.026	2.60E−08	38,443	0.019	−0.140	0.019	3.80E−13	66,336
CAMK2D	rs35132791	4	114456506	C	G	0.744	−0.053	0.009	8.90E−09	29,455	0.740	−0.025	0.008	9.90E−04	41,107	0.742	−0.037	0.006	3.10E−10	70,932
NKX2-5	rs6882776	5	172664163	G	A	0.720	−0.039	0.009	1.10E−05	29,157	0.716	−0.050	0.008	5.70E−11	40,690	0.717	−0.044	0.006	1.50E−14	70,213
RUFY1	rs80090179	5	178936268	T	G	0.989	−0.170	0.040	2.10E−05	27,892	0.989	−0.144	0.034	2.00E−05	38,925	0.989	−0.156	0.026	9.50E−10	67,167
SLC35F1	rs12210810	6	118653204	G	C	0.944	0.106	0.018	1.30E−09	29,624	0.945	0.123	0.015	1.20E−16	41,342	0.945	0.118	0.011	4.60E−26	71,338
CREB5	rs12700888	7	28409532	A	C	0.264	0.047	0.009	2.00E−07	29,355	0.261	0.040	0.008	2.30E−07	40,967	0.262	0.042	0.006	5.80E−13	70,691
CAV2	rs17138749	7	116133098	A	C	0.838	−0.036	0.011	7.50E−04	29,511	0.837	−0.042	0.009	6.00E−06	41,184	0.838	−0.040	0.007	9.30E−09	71,065
KCNH2	rs113843864	7	150618509	G	A	0.752	0.077	0.009	6.70E−17	29,582	0.752	0.047	0.008	2.60E−09	41,283	0.752	0.059	0.006	4.10E−23	71,236
PRAG1	rs2976944	8	8270914	T	C	0.486	−0.040	0.008	8.10E−07	29,199	0.489	−0.025	0.007	2.60E−04	40,749	0.488	−0.028	0.005	3.50E−08	70,315
MSRA	rs10283145	8	10241411	C	T	0.484	0.027	0.008	8.20E−04	29,386	0.482	0.034	0.007	4.80E−07	41,009	0.483	0.030	0.005	5.50E−09	70,764
AZIN1	rs608236	8	103928940	A	G	0.433	0.030	0.008	2.70E−04	29,264	0.433	0.044	0.007	1.30E−10	40,839	0.433	0.038	0.005	2.80E−13	70,471
ZMIZ1	rs2486695	10	80871063	G	A	0.612	−0.038	0.008	3.50E−06	29,466	0.615	−0.038	0.007	4.70E−08	41,121	0.613	−0.037	0.005	1.70E−12	70,957
IGF1R	rs2871974	15	99284074	C	T	0.363	−0.054	0.008	1.00E−10	29,500	0.358	−0.032	0.007	5.40E−06	41,169	0.360	−0.042	0.005	2.90E−15	71,040
LITAF†	rs2080512	16	11692198	G	T	0.538	−0.035	0.008	1.60E−05	29,452	0.539	−0.031	0.007	3.40E−06	41,102	0.538	−0.034	0.005	2.00E−11	70,924
GINS3	rs1424077	16	58462627	G	A	0.273	−0.050	0.009	1.70E−08	29,486	0.275	−0.020	0.008	7.50E−03	41,150	0.274	−0.033	0.006	5.60E−09	71,006
KCNJ2∗	rs4399570	17	68479345	G	A	0.698	0.162	0.009	2.20E−78	29,508	0.699	0.125	0.007	1.60E−64	41,180	0.699	0.142	0.006	5.30E−143	71,058
PYGB	rs55769542	20	25272895	C	CA	0.674	−0.047	0.009	3.70E−07	25,533	0.674	−0.030	0.008	8.30E−05	35,633	0.674	−0.037	0.006	2.60E−10	61,487
DEFB118	rs36094783	20	29934214	G	A	0.932	−0.068	0.016	2.50E−05	28,334	0.932	−0.050	0.014	2.70E−04	39,541	0.932	−0.057	0.010	3.20E−08	68,231
KCNJ4	rs196064	22	38851392	C	T	0.632	0.049	0.008	3.80E−09	29,421	0.634	0.049	0.007	3.00E−12	41,058	0.633	0.049	0.005	1.30E−20	70,848

Abbreviations: SNV, single-nucleotide variation; CHR, chromosome; BP, position, based on HG build 19; EA, effect allele; AA, alternate allele; EAF, effect allele frequency from discovery data; β, beta; SE, standard error; n, number of participants; p, p value. The locus name indicates the gene that is in the closest proximity to the most associated SNV. Replicated SNVs in the replication cohort are indicated in bold type.

^aIndicates has a secondary signal. The secondary signal at DPT, rs761499672, was located 379 kb away from the lead SNV, rs607484, while the secondary signals at SCN5A-SCN10A, rs6797133 and rs6801957, were located 54 kb and 57 kb, respectively, away from the lead SNV (rs7373065); and the secondary signal at LITAF, rs570620219, was located 40 kb away from the lead SNV (rs2080512).

^bLead SNV is in moderate LD (r² = 0.56) with the lead SNV for Tpe response to exercise.