Table 1.

Polymorphism description.

Marker ID	Coordinates cytogenetic/genomic	Gene	Function	MAF/MA count	Association findings
Disease	Reference
rs2277460	14q13.2:/14:35761573	PSMA6	Promoter: c.-110C>A (c.-109-1C>A)	A = 0.0634/138	T2DM	Sjakste et al., 2007b
JIA	Trapina et al., 2009, Sjakste et al., in press
rs1048990	14q13.2/14:35761675	PSMA6	5′-UTR: c.-8C>G	G = 0.195/425	T2DM	Sjakste et al., 2007b, Barbieri et al., 2008
CVD	Ozaki et al., 2006, Sjakste et al., 2007a, Sjakste et al., 2007b, Takashima et al., 2007, Bennett et al., 2008, Liu et al., 2009, Banerjee et al., 2009, Alsmadi et al., 2009, Hinohara et al., 2009, Honcharov et al., 2009, Ikeda et al., 2012; Heckman et al., 2013;Wang et al., 2013
Cancer	Bachmann et al., 2010
rs2295826	14q22.1/14:53174923	PSMC6	Intron 1: c.128-104A>G	G = 0.124/271	JIA	Sjakste et al., in press
rs2295827	14q22.1/14:53174981	PSMC6	Intron 1: c.128-46C>T	T = 0.102/222	JIA	Sjakste et al., in press
rs2348071	14q23/14: 58730626	PSMA3	Intron 7: c.543 + 138G>A; c.522 + 138G>A; c.576 + 138G>A	A = 0.369/804	JIA	Sjakste et al., in press
Obesity	Kupca et al., 2013

Ancestral allele is underlined in the motif description. MAF/MA count is given according to the 1000 genome phase 1 population project data Abbreviations: MAF — minor allele frequency; MA — allele minor in Caucasians; T2DM — type 2 diabetes mellitus; CVD — cardiovascular disorders; JIA — juvenile idiopathic arthritis.