Table 1 Sixteen loci identified through single variant approaches for genome-wide association for platelet aggregation in response to epinephrine, ADP and collagen in 3855 TOPMed participants.

From: Genome sequencing unveils a regulatory landscape of platelet reactivity

Known vs Novel^a	chr:pos (hg38)	rsID	ref/alt	Nearest Gene	MAF	ADP		Collagen lag time		Epinephrine
Known vs Novel^a	chr:pos (hg38)	rsID	ref/alt	Nearest Gene	MAF	P	beta	P	beta	P	beta
Novel	1:20567949	rs12137738	A/T	FAM43B,CDA	0.077	2.62E−04	0.22	1.71E−02	−0.108	1.04E−08	0.306
Novel	1:67128641	rs142001088	C/T	C1orf141	0.018	2.88E−02	0.203	9.25E−09	−0.503	2.51E−03	0.276
Known	1:156899922	rs12041331	G/A	PEAR1	0.148	7.61E−17	−0.329	7.58E−17	0.317	2.31E−18	−0.358
Novel	1:192194880	rs1175170	G/C	RGS18,RGS21	0.442	7.86E−06	0.123	2.37E−02	−0.057	1.96E−09	0.155
Novel	5:19109993	rs112157462	T/C	LINC02223,CDH18	0.022	1.64E−02	−0.281	1.19E−08	0.458	5.90E−03	−0.23
Novel	6:121921871	rs58250884	A/G	GJA1,HSF2	0.087	1.69E−03	−0.153	2.34E−02	0.106	2.22E−08	−0.273
Novel	9:28873884	rs185159562	T/A	LINGO2	0.005	1.16E−02	−0.447	1.45E−01	0.243	3.87E−08	−0.988
Novel	10:75490891	rs138028657	A/G	LRMDA	0.006	6.44E−01	0.073	1.52E−08	−0.858	6.14E−01	−0.102
Known	10:111139289	rs7097060	T/A	ADRA2A,GPAM	0.137	5.45E−01	−0.028	6.73E−01	−0.015	6.68E−12	−0.251
Novel	11:92185065	rs183146849	A/T	DISC1FP1,FAT3	0.012	3.11E−08	−0.702	4.38E−01	−0.084	5.73E−04	−0.376
Novel	12:132589485	rs140148392	G/A	FBRSL1,LRCOL1	0.009	1.51E−01	0.254	2.88E−08	0.669	3.54E−01	0.138
Novel	13:96912429	rs61974290	A/G	HS6ST3,LINC00359	0.057	9.58E−02	−0.088	9.43E−03	0.134	3.36E−09	−0.4
Novel	17:16451482	rs575524466	G/A	LRRC75A-AS1	0.003	1.90E−01	−0.315	3.13E−08	1.169	5.35E−02	−0.463
Novel	17:21960955	–	A/T	KCNJ18,UBBP4	0.276	2.87E−08	0.167	1.88E−03	−0.089	7.73E−19	0.26
Novel	18:29059923	rs138845468	TAAATA/T	CDH2,MIR302F	0.082	6.99E−02	0.087	3.23E−08	−0.25	1.21E−01	0.087
Novel	20:50142397	rs542707094	CTG/C	TMEM189,TMEM189-UBE2V1	0.003	3.16E−02	−0.486	3.53E−08	1.194	3.05E−02	−0.487

P values presented are a summary across all individual phenotypes for the single agonist (i.e., the minimum P value for the SNV from 8, 7 and 4 individual phenotypes for epinephrine, ADP, and collagen, respectively), alternate allele (alt) represents minor allele (see Supplementary Table 1). P values are from a two-sided score test with no adjustment for multiple testing.
^aLoci were defined as known if they were identified in the prior array-based GWAS approaches^8,9,10, else they were labeled as novel.

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Table 1 Sixteen loci identified through single variant approaches for genome-wide association for platelet aggregation in response to epinephrine, ADP and collagen in 3855 TOPMed participants.

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