Table 1.

Results of discovery, replication and validation for the HIGH and LOW/MID phenotypes.

Gene	SNP	chr	pos	EA	EAF	Discovery (n = 9,675)						Replication								Validation
						HIGH			LOW/MID			European ancestry only				All ancestries				UK Biobank (n = 356,141)
						beta	dir	P	beta	dir	P	beta	P	dir	N	beta	P	dir	N	beta	P
IPP	rs61784824	1	46211347	A	0.71	−0.083	−−−−−−	5.59E-07	−0.049	−−−−−−	1.94E-03	−0.089	0.011	?−	2,122	−0.018	0.244	?−+−	9,749	−0.032	4.05E-08 *
CTH	rs61776709	1	70994590	A	0.87	−0.083	−−−−−−	1.70E-04	−0.110	−−−−−−	1.51E-07	0.087	0.052	?++	2,158	0.012	0.520	?+++−	9,794	−0.007	4.00E-01
SPTBN1	rs6740893	2	54834380	A	0.23	0.062	++++++	3.39E-04	0.091	++++++	3.22E-08 *	0.002	0.954	−+	3,319	−0.019	0.221	−+−	10,955	0.029	3.09E-06 *
ILDR1	rs2332035	3	121715432	T	0.29	0.100	++++++	7.83E-10 *	0.070	++++++	4.77E-06	0.015	0.600	+++	3,283	−0.008	0.594	++++−	10,91	0.032	1.47E-07 *
TRIL	rs12112406	7	28937083	A	0.26	0.091	++++++	3.88E-07	0.059	++++++	4.99E-04	0.061	0.032	+++	3,283	−0.011	0.512	+++−	10,91	0.024	7.21E-05 *
RP11-32K4.1	rs9298078	8	64906619	T	0.05	0.144	++++++	2.99E-05	0.181	+−++++	3.36E-08 *	−0.011	0.867	+−+	3,319	−0.044	0.092	+−++−	10,955	−0.002	8.61E-01
DOCK9	rs1289319	13	99457063	T	0.60	−0.075	−−−−−−	4.84E-07	−0.048	−+−+−	7.68E-04	−0.001	0.974	+−+	3,283	−0.008	0.567	+−++−	10,91	0.001	8.59E-01
ISG20	rs56203268	15	89265679	T	0.83	0.086	++++++	2.51E-04	0.114	++++++	2.57E-07	−0.090	0.034	?−	2,158	0.005	0.808	?−+	9,794	0.037	1.91E-07 *
SPIRE2	rs6500458	16	89907205	A	0.42	−0.085	−+−-−−	3.12E-07	−0.036	−+−+−	2.21E-02	−0.067	0.011	−	3,283	−0.046	0.002 *	−−−−−	10,91	NA	NA
FXYD5	rs10403118	19	35677210	A	0.79	−0.046	−−−−+−	1.83E-02	−0.092	−−−−−−	4.82E-07	−0.066	0.040	−	3,319	−0.052	0.007	−+−	10,955	0.000	9.54E-01

HIGH: high frequency phenotype; LOW/MID: low and mid frequency phenotype; chr: chromosome; pos: position; EA: Effect allele; EAF: Effect allele frequency; dir: direction (for discovery cohorts: RS-II, RS-III, AGES, CHS, FHS, HABC; for replication cohorts: Antwerp, G-EAR, TwinsUK, JHS, HCHS/SOL). SNPs included are suggestively (P <1*10⁻⁶, listed in bold) or significantly (P < 5*10⁻⁸, indicated by an asterisk) associated in at least 1 phenotype. In replication and validation (UKB: UK Biobank): SNPs with nominally significant P-values (< 0.05) are listed in bold, SNPs significant after correcting for multiple testing (P = 0.005; 0.05/10 loci) are also indicated by an asterisk.