Identifying changes in punitive transcriptional factor binding sites from regulatory single nucleotide polymorphisms that are significantly associated with disease or sickness

Table 1 Genes and their single nucleotide polymorphisms that have been found to be associated with disease or sickness

Protein and gene symbol	Chromosome	SNP	SNP location	Mutation	LD	Ref.
Adrenergic, beta, receptor kinase 1	11q13.1	rs948988	intron 2	c.190 + 653G > A	Yes	[9,19]
		rs4370946	3'UTR	c.*217C > T	Yes
v-akt murine thymoma viral oncogene homolog 3	1q44	rs4590656	intron 1	c.46 + 3654C > T	Yes	[8,19]
		rs10157763	intron 1	c.46 + 11386C > T	Yes
		rs2125230	intron 1	c.47-26830G > A	Yes
Activating transcription factor 3	1q32.3	rs3125289	promoter	c.-5 + 9322T > C	Unknown	[19,20]
		rs11119982	promoter	c.-4-23516C > T	Unknown
Type 2 demodkinase gene	14q24.3	rs225015	3'UTR	c.*1453G > A	Yes	[19,21]
		rs225011	intron 1	c. 330 + 366C > T	Yes
		rs12885300	5'UTR	c.-451C > T	Yes
Endothetal Per-Arnt-Sim domain protein 1	2p21	rs6756667	intron 2	c.218-3881A > G	No	[22]
		rs1868092	3'UTR	c.*2403G > A	No
Lysosomal acid lipase A	10q23.31	rs1412444	intron 2	c.229 + 2506C > T	n/a	[23]
Signal transducer and activator of transcription 4	2q32.3	rs8179673	intron 2	c.274-28290T > C	Yes	[24]
		rs10181656	intron 2	c.274-28828C > G	Yes
Thromboxane A2 receptor	19p13.3	rs2238631	intron 1	c.-84 + 2229G > A	Yes	[19,25]
		rs2238632	intron 1	c.-84 + 2030C > T	Yes
		rs2238634	intron 1	c.-84 + 1799G > T	Yes
Vascular endothelial growth factor A	6p21.1	rs34357231	promoter	c. -2550-2568D > I	Yes	[19,26,28]
		rs1570360	promoter	c.-614A > G	Yes
		rs3025039	3'UTR	c.*237C > T	Yes

Also listed is the gene chromosome location, single nucleotide polymorphism location in the gene and the resulting genetic mutation as well as the occurrence of linkage disequilibrium between single nucleotide polymorphisms found within each gene. SNP: Single nucleotide polymorphism; LD: Linkage disequilibrium; n/a: Not available.