Table 3.

Single nucleotide polymorphisms (SNPs) in SSADH gene associated with multifactorial traits

dbSNP	Chr. 6 (bp)§	Nucleotide variation	Gene location	Amino acid substitution	MAF* (allele)	In vitro enzyme activity#	Associated Multifactorial Trait	References
rs1883415	24491247	A>C	upstream	n.a.	0.17-0.39 (C)	n.a	IGE and PPR** mTLE^ ALP, ALT, GGT plasma conc.	Lorenz et al., 2006 Pernhorst et al., 2011 Chambers et al., 2011
rs4646832	24495102	c.106G>C	exon 1	p.G36R	0.02-0.11 (C)	86.7%
rs2760118	24503362	c.538C>T	exon 3	p.H180Y	0.17-0.47 (T)	82.5%	Intelligence quotient (IQ) Aging: rate and quality General cognitive ability Response to methadone treatment	Plomin et al., 2004 De Rango et al., 2008 Chabris et al., 2012 Fonseca et al., 2013
rs3765310	24503369	c.545C>T	exon 3	p.P182L	0.02-0.11 (T)	46.7%
rs62621664	24504968	c.709G>T	exon 4	p.A237S	0.00-0.02 (T)	65.1%
rs1569579	24513408	C>T	intron 5	n.a.	0.09-0.47 (C)	n.a.	Ocular phoria	Bosten et al., 2014
rs807518	24526015	C>A	intron 7	n.a.	0.01-0.51 (C)	n.a.	Age-related Macular Degeneration	SanGiovanni et al., 2014
rs809419	24526762	G>A	intron 7	n.a.	0.16-0.73 (A)	n.a.	Age-related Macular Degeneration	SanGiovanni et al., 2014
rs2744594	24527605	T>A	intron 7	n.a.	0.10-0.57 (T)	n.a.	Age-related Macular Degeneration	SanGiovanni et al., 2014
rs12199955	24531222	T>G	intron 8	n.a.	0.05-0.54 (G)	n.a.	Age-related Macular Degeneration	SanGiovanni et al., 2014
rs61744005	24532164	c.1389T>C	exon 9	p.D463D	0.00-0.01 (C)	n.a.