Table 2.

Human CYBA polymorphism update

SNP	Reference	Location	effect	Reference
minus 930A>G	rs9932581	Promoter	Activation by C/EBP	Moreno et al., 2003
minus 852G>C	NA	Promoter	NA	Doi et al., 2005; Moreno et al., 2007
minus 6751>A	rs16966671	Promoter	Activated by HIF-1-α	Moreno et al., 2007
minus 536C>T	rs13306296	Promoter	NA	Moreno et al., 2007
C.59-37A/G	rs3794624	Intron 1	NA	Rae et al., 2000; Patente et al., 2015
c.36A>G#	rs8053867	exon 1	p.Glu12Glu	Bedard et al., 2009
C.179A/C	NA	exon 3	p.Lys60Thr	Rae et al., 2000
c.214T>C* (or also called C242T)	rs4673	exon 2	p.His72Tyr	Dinauer et al., 1990; Bedard et al., 2009
c.288-138ins50	NA	exon 5	NA	El Kares et al., 2006
c.381T>C*	rs17354689	exon 6	p.Arg127arg	Bedard et al., 2009
c.403G>A	NA	exon 6	p.Glu135Lys	Rae et al., 2000
c.480G>A#	NA	exon 6	p.Pro160Pro	De Boer et al., 1992; Rae et al., 2000: Bedard et al., 2009
c.512A>G#	ss107795100	exon 6	p.Glu171Gly	Bedard et al., 2009;
c.521T>C* (or also called C549T)	rs1049254	exon 6	p.Ala174Val	Dinauer et al., 2000; Bedard et al., 2009
c.579G>T#	ss107795101	exon 6	p.Glu193Asp	Bedard et al., 2009
c612A>G* (+24 of 3′ UT region (or	rs1049255	3′UTR	NA	De Boer et al., 1992; Bedard et al., 2009