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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

From: Association between fetal growth restriction and polymorphisms at sites -1 and +3 of pituitary growth hormone: a case-control study

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