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Table 2 Minor allele frequencies of the 23 SNPs detected in the PI3 gene.

From: Identification of novel functional sequence variants in the gene for peptidase inhibitor 3

  Location     
GenBank entry positiona ntb region Non-synonymous substitution MAF rs number MAF in dbSNP
48460A>G -1077 promoter   0.107   
48470A>G -1067 promoter   0.107   
48474G>A -1063 promoter   0.121   
48577T>Del -960 promoter   0.103   
48626G>A -911 promoter   0.009   
48669C>G -868 promoter   0.138 2267863  
48848C>G -689 promoter   0.107   
48862C>T -675 promoter   0.107   
49084T>G -453 promoter   0.005   
49199G>A -338 promoter   0.107   
49279A>G -258 promoter   0.005   
49586C>T +50 exon 1 T17M 0.107 17333103 0.169
49681C>A +145 IVS 1   0.107 17333180 0.169
49698T>A +162 IVS 1   0.455 1983649 0.471
49940C>G +404 IVS 1   0.083c   
49944C>T +408 IVS 1   0.125c   
50105C>G +569 IVS 1   0.146c 16989785 0.056
50163A>G +627 IVS 1   0.146c 17424356 0.169
50287T>A +751 IVS 1   0.063c 6032040 0.176
50495A>C +959 exon 2 T34P 0.125c 2664581 0.156
50659C>T +1123 exon 2   0.020c   
50762C>A +1226 IVS 2   0.125c   
50770C>A +1234 IVS 2   0.125c 17424474 0.152
  1. aGenBank accession No. AL049767.12.
  2. bLocation is with respect to translation start site.
  3. cFrequency estimated from 24 unrelated individuals.