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Table 7 IPO13 polymorphisms identified through SNP discovery effort

From: Importin-13 genetic variation is associated with improved airway responsiveness in childhood asthma

SNP Alleles MAF rs number Chr 1 position (in bp from pter) Conserved base*
-1022 C>G C/G 0.043 - 44184837 No
Asp415Asp C/T 0.043 rs17402858 44195209 Yes
IVS11-13 C>T C/T 0.050 - 44196992 No
IVS14+14 A>G A/G 0.043 rs2906596 44199535 No
IVS17+46 G>C G/C 0.174 rs4660759 44205087 No
Asp891Ser G/T 0.022 - 44205631 Yes
g.20431 A>G A/G 0.022 - 44206290 Yes
g.21341 A>G A/G 0.087 rs2486007 44207200 No
  1. The nomenclature for discovered variation provided here follows that recommended by den Dunnen and Antonarakis[29]. Asp = Aspartic Acid; Ser = Serine; IVS denotes intervening sequence (i.e. intronic) SNP. MAF = minor allele frequency.
  2. * Conservation based on 8-species sequence alignment as derived using Phylo-HMMs[30].