Table 2.

Frequency of alleles at 26 single nucleotide polymorphisms in the promoter and coding region of pituitary growth hormone and the nucleotide present at the homologous site in other members of the human GH locus

		Frequency		GH1 paralogs
Position*	Alleles	This Study	Horan et al.	CS-5	CS-1	GH2	CS-2	Categorization	Function**
-580	A	0.985		A	A	A	A	Constant
	G	0.015
-476	A	0.012	0.013	A	G	A	G	Variant
	G	0.988	0.987
-360	A	0.972		G	G	G	G	Variant
	G	0.028
-352	G	0.012		T	G	G	G	Variant
	T	0.988
-308	G	0.732	0.753	T	C	T	C	Variant
	T	0.268	0.247
-301	G	0.732	0.753	T	T	T	T	Variant
	T	0.268	0.247
-278	G	0.628	0.601	T	A	T	A	Variant	NF1
	T	0.372	0.399
-168	C	0.024	0.019	T	C	T	C	Variant
	T	0.976	0.981
-75	A	0.900	0.886	G	A	G	A	Variant	PIT-1
	G	0.100	0.114
-57	G	0.687	0.633	G	T	A	T	Variant	Vitamin D Receptor
	T	0.313	0.367
-31	G	0.882	0.867	G	G	-	G	Variant	Vitamin D Receptor
	-	0.118	0.133
-6	A	0.565	0.588	A	G	A	G	Variant	Transcription Start
	G	0.435	0.412
-1	A	0.847	0.932	C	T	A	T	Variant	Transcription Start
	C	0.044	0.003
	T	0.109	0.065
3	C	0.044	0.003	C	G	G	G	Variant	Transcription Start
	G	0.956	0.997
16	A	0.976	0.981	G	A	A	A	Variant	5' UTR
	G	0.024	0.019
25	A	0.980	0.981	C	A	A	A	Variant	5' UTR
	C	0.020	0.019
59	G	0.072	0.049	G	G	G	G	Variant	5' UTR
	T	0.928	0.951
69	A	0.968		G	C	G	G	Variant	Thr/Ala
	G	0.032
124	A	0.988		G	A	G	A	Variant	Intron
	G	0.012
128	A	0.988		C	C	T	C	Variant	Intron
	T	0.012
140	A	0.004		G	G	G	G	Constant	Intron
	G	0.996
144	A	0.012		G	G	G	G	Constant	Intron
	G	0.988
281	C	0.024		T	C	C	C	Variant	Intron
	T	0.976
596	C	0.986		T	T	T	T	Variant	Intron
	T	0.014
1070	A	0.004		G	G	G	G	Constant	Synonymous
	G	0.996
1169	A	0.331		T	T	T	T	Constant	Intron
	T	0.669

* Relative to the start of transcription

** Polymorphisms in known transcription factor binding sites are shown. Site +69 is part of the signal peptide.