Table 1.

Summary of the tested SNPs

Chr	Gene	dbSNP ID	Position (bp)	Accession number	Reference sequence	Functional region	Potential effect
6	HLA-G	rs1632947	29,826,881	NC_000006.12	XM_017010817.1:c-964G>A	Promoter	Gene expression (Castelli et al. 2014)
6	HLA-G	rs1233334	29,827,120	NC_000006.12	XM_005249055.1:c.-725G>C XM_005249055.1:c.-725G>T	Promoter	Gene expression (Hviid et al. 2004, 2006)
6	HLA-G	rs371194629	29,830,804–29,830,805	NC_000006.12	NM_002127.5:c.*65_*66insATTTGTTCATGCCT	3′UTR of exon 8	mRNA stability; splicing; microRNA targeting (Castelli et al. 2014); the14 bp insertion allele is associated with lower concentration of soluble HLA-G (Chen et al. 2008)
19	LILRB1	rs41308748	54,636,725	NC_000019.10	NM_006669.6:c.1807-7G>A	Intronic	Splicing
19	LILRB1	rs1061680	54,632,001	NC_000019.10	NM_006669.6:c.425T>C	Non-synonymous, extracellular D2 domain, NP_006660.4:p. 142 Ile142Thr	Receptor-ligand interaction (Davidson et al. 2010; Kuroki et al. 2005)
19	LILRB2	rs7247538	54,278,869	NC_000019.10	NM_001080978.3:c.898C>T	Non-synonymous,NP_001074447.2:p. 300 His300Tyr	Splicing
19	LILRB2	rs383369	54,280,275	NC_000019.10	NM_001080978.3:c.59G>A	Signal peptide NP_001074447.2:p. 20 Arg20His	Gene expression (Hirayasu et al. 2008)
19	KIR2DL4	rs649216	54,813,180	NC_000019.10	NM_001080772.1:c.762T>C	NP_001074241.1:p. 254 Phe254	In complete LD with rs11410751(NC_000019.10:g.54813228_54813229insA), which determines the encoding of soluble or membrane-bound KIR2DL4 receptor (Nowak et al. 2015b)

Chr Chromosome; Genomic position is shown relative to GRCh38.p7; SNP IDs are according to dbSNP (rs, http://www.ncbi.nlm.nih.gov/SNP); c.*65_*66insATTTGTTCATGCCT was earlier described as 14 bp ins/del in 3′UTR of the HLA-G gene (Wiśniewski et al. 2010, 2015); NM_006669.6:c.1807-7G>A was earlier described as 5651 G>A (rs41308748) (Wiśniewski et al. 2015; Nowak et al. 2016); NM_006669.6:c.425T>C was earlier described as 927 T>C (rs1061680) (Davidson et al. 2010), and were relative to the translation start site