Genome-wide meta-analysis identifies novel loci associated with parathyroid hormone level

Table 2 Associations of top single nucleotide polymorphisms(P < 5 × 10⁻⁶) with PTH concentrations

SNP	Chr	Position	Nearest Gene	Effect Allele	Other Allele	EAF Korcula	EAF Vis	EAF Split	GnomAD EAF	β	SE	P value
rs11099476	4	82,486,056	RASGEF1B	T	A	0.57	0.55	0.54	0.59	0.16	0.03	1.15×10⁻⁸
rs77178854	2	116,496,539	DPP10	C	G	0.97	0.98	0.99	0.98	0.58	0.11	2.46×10⁻⁷
rs481121	1	37,203,485	GRIK1	A	G	0.56	0.56	0.58	0.49	0.14	0.03	3.58×10⁻⁷
rs76615278	19	18,654,588	FKBP8	G	A	0.84	0.83	0.82	*	0.20	0.04	6.34×10⁻⁷
rs1875872	17	31,795,716	ASIC2	A	G	0.62	0.65	0.65	0.65	0.14	0.03	1.94×10⁻⁶
rs9512841	13	28,309,646	GSX1	G	A	0.51	0.52	0.53	0.58	0.13	0.03	2.01×10^− 6
rs191686630	5	58,477,398	PDE4D	A	T	0.11	0.16	0.21	*	0.19	0.04	2.36×10⁻⁶
rs3136797	8	42,226,805	POLB	C	G	0.98	0.99	0.98	0.99	0.57	0.12	2.68×10⁻⁶
rs499177	8	98,472,201	MTDH	T	C	0.46	0.57	0.45	0.44	0.13	0.03	4.66×10⁻⁶
rs58726672	10	8,407,822	GATA3	C	T	0.98	0.98	0.98	0.98	0.57	0.13	4.77×10⁻⁶

Top SNPs were defined as the SNP with lowest P value within a 500 kb window
Chr: chromosome; EAF: effect allele frequency; GnomAD EAF: effect allele frequency from Genome Aggregation Database; β: effect size; SE: standard error
*variants without frequency information in Genome Aggregation Database

ISSN: 1528-3658