Table 2.

Single-variant case-control association analysis in 521 ET cases and 596 healthy individuals.

Variant (HGVS)	Gene	rs ID	Reference allele	Alternate allele	ET [n = 521] (AF)	Controls [n = 596] (AF)	P-value* (OR) [95% CI]
NM_001145710.1: c.906delC	FAM228B	Novel	C	DEL	35 (0.034)	26 (0.022)	0.0922 (1.56) [0.91–2.72]
NM_003241.3: c.806G>A	TGM4	rs139860990	G	A	18 (0.017)	16 (0.013)	0.4918 (1.29) [0.62–2.72]
NM_001005516.1: c.904delA	OR5K3	rs79045298	A	DEL	0 (0)	0 (0)	1 (nan)
NM_183375.2: c.127_131delGTCAG	PRSS48	Novel	GTCAG	DEL	0 (0)	0 (0)	1 (nan)
NM_194251.2: c.283C>T	GPR151	rs114285050	G	A	14 (0.013)	6 (0.005)	0.0425 (2.69) [0.97–8.58]
NM_015465.4: c.2519_2522delTCAA	GEMIN5	rs769616395	TTGA	DEL	2 (0.002)	0 (0)	0.2174 (nan)
NM_004999.3: c.2751insA	MYO6	rs551348450	DEL	A	0 (0)	0 (0)	1 (nan)
NM_001039374.4: c.1025G>A	CCDC183	rs749875462	G	A	14 (0.013)	4 (0.003)	0.0087 (4.04) [1.26–16.91]
NM_002425.2: c.32_33delGT	MMP10	rs535864157	AC	DEL	5 (0.005)	0 (0)	0.0220 (nan)
NM_001261828.1: c.167_168insTT	MS4A14	Novel	DEL	TT	2 (0.002)	0 (0)	0.2174 (nan)
NM_144666.2: c.2839G>T	DNHD1	rs180918289	G	T	27 (0.026)	47 (0.039)	0.0768 (0.65) [0.39–1.07]
NM_001005182.1: c.24delA	OR6C1	Novel	A	DEL	0 (0)	0 (0)	1 (nan)
NM_181536.1: c.3691_3694delCAAA	PKD1L3	Novel	TTTG	DEL	0 (0)	0 (0)	1 (nan)
NM_032423.2: c.1282C>T	ZNF528	rs150257846	C	T	2 (0.002)	2 (0.002)	1 (1.14) [0.08–15.81]

Key: AF, allele frequency; CI, confidence interval; DEL, deletion; HGVS, Human Genome Variation Society; nan, not a number/not available; OR, odds ratio.

^*P-values derived from Fisher’s Exact test. All p-values were two-tailed and significant threshold was set at 0.0036 after Bonferroni correction (0.05/14 variants). Nominal associations (p < 0.05) are highlighted in bold.