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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].
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Respiratory Research

ISSN: 1465-993X

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