Whole-Genome Sequencing Identifies the Egl Nine Homologue 3 (egln3/phd3) and Protein Phosphatase 1 Regulatory Inhibitor Subunit 2 (PPP1R2P1) Associated with High-Altitude Polycythemia in Tibetans at High Altitude

Table 3

Association between HAPC and 2 variants.

MAF
Chr.	Near gene	Variants	Allele	Case	Control	value	OR (95% CI)
14q13.1	EGLN3	rs1346902	C/G	0.342	0.477	0.0000191	0.57 (0.44-0.74)
6p21.32	HLA-DRB1-HLA-DQA1	rs521539	A/G	0.561	0.475	0.012	1.41 (1.08–1.84)

Chr.: chromosome; MAF: minor allele frequency; CI: confidence interval. Alleles are shown as minor allele/major allele. Odds ratio and CI for A allele vs. G allele. The egl nine homologue 3 (egln3/phd3) (14q13.1, rs1346902, ) and PPP1R2P1 (Protein Phosphatase 1 Regulatory Inhibitor Subunit 2) gene (6p21.32, rs521539, ).