Table 2.

Description and Location of the Analyzed THBS1 Polymorphisms

				mRNA		Protein
SNP	Reference SNP	MAF	Function	Position	Allele change	Position	Residue change	Location
SNP1	rs1478604	0.41	UTR-5	42	T → C	NA	NA	UTR-5
SNP2	rs2228261	0.241	Synonymous	1589	AAC → AAT	470	N → N	Type I repeats
SNP3	rs2292305	0.253	Missense	1746	ACA → GCA	523	T → A	Type II repeats
SNP4	rs2228262	0.053	Missense	2278	AAT → AGT	700	N → S	Type III repeats
SNP5	rs3743125	0.163	UTR-3	3970	G → A	NA	NA	UTR-3

MAF = minor allelic frequency; NA = not applicable; SNP = single nucleotide polymorphism; UTR = untranslated region.