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Table 1 Gene and single nucleotide polymorphisms (SNPs)

From: Genetic polymorphisms and risk of recurrent wheezing in pediatric age

Gene

dbSNP

HGVS description

Functional consequence

Position (bp)

Chr

Gene location

ADRB2

Rs1042713

NC_000005.9:g.148206440G > A

Mis-sense

148206440

5

Exon

CCL5

Rs2280788

NC_000017.10:g.34207405G > C

Upstream variant 2 KB

34207405

17

Intergenic

CHUK

Rs3808916

NC_000010.10:g.101947737C > T

Downstream variant

101947737

10

Intergenic

CTLA4

Rs3087243

NC_000002.11:g.204738919G > A

Downstream variant

204738919

2

Intergenic

CXCL9

Rs2276886

NC_000004.11:g.76928428C > T

Intron variant

76928428

4

Intron

JUN

Rs11688

NC_000001.10:g.59247993C > T

Transition substitution

59247993

1

Exon

IKIKB

Rs3747811

NC_000008.10:g.42129505A > T

Intron variant

42129505

8

Intron

 

Rs10958713

NC_000008.10:g.42180716C > T

Intron variant

42180716

8

Intron

IL1RL1

Rs1921622

NC_000002.11:g.102966067G > A

Intron variant

102966067

2

Intron

IL1R2

Rs740044

NC_000002.11:g.102600169A > C

Transversion substitution

102600169

2

Exon

IL4R

Rs1805010

NC_000016.9:g.27356203A > G

Mis-sense

27356203

16

Exon

 

Rs1805015

NC_000016.9:g.27374180 T > C

Mis-sense

27374180

16

Exon

 

Rs1801275

NC_000016.9:g.27374400A > G

Mis-sense

27374400

16

Exon

IL7

Rs2583762

NC_000008.10:g.79697483A > T

Intron variant

79697483

8

Intron

IL8

Rs4073

NC_000004.11:g.74606024A > T

Upstream variant 2 KB

74606024

4

Intergenic

IL10

Rs1800872

NC_000001.10:g.206946407 T > G

Upstream variant 2 KB

206946407

1

Intergenic

 

Rs1800896

NC_000001.10:g.206946897 T > C

Upstream variant 2 KB

206946897

1

Intergenic

IL13

Rs20541

NC_000005.9:g.131995964A > G

Mis-sense

131995964

5

Exon

 

Rs1800925

NC_000005.9:g.131992809C > T

Upstream variant 2 KB

131992809

5

Intergenic

IL18

Rs187238

NC_000011.9:g.112034988C > G

Upstream variant 2 KB

112034988

11

Intragenic

IL18RAP

Rs917998

NC_000002.11:g.103068156C > T

Intron variant

103068156

2

Intron

Il19

Rs2243188

NC_000001.10:g.207014472A > C

Intron variant

207014472

1

Intron

 

Rs2243191

NC_000001.10:g.207015957 T > C

Mis-sense

207015957

1

Exon

IL20

Rs2981573

NC_000001.10:g.207040577G > A

Intron variant

207040577

1

Intron

LBP

Rs12624843

NC_000020.10:g.36989096G > A

Intron variant

36989096

20

Intron

MBL2

Rs1800450

NC_000010.10:g.54531235C > T

Mis-sense

54531235

10

Exon

 

Rs1800451

NC_000010.10:g.54531226C > T

Mis-sense

54531226

10

Exon

 

Rs5030737

NC_000010.10:g.54531242G > A

Mis-sense

54531242

10

Exon

MAP3K1

Rs702680

NC_000005.9:g.56220382 T > C

Intron variant

56220382

5

Intron

 

Rs889312

NC_000005.9:g.56031884C > A

Upstream variant

56031884

5

Intergenic

NFKB1A

Rs2233419

NC_000014.8:g.35871960G > A

Intron variant

35871960

14

Intron

 

Rs3138052

NC_000014.8:g.35875021 T > C

Upstream variant 2 KB

35875021

14

Intergenic

NFKB1B

Rs3136641

NC_000019.9:g.39396649C > T

Intron variant

39396649

19

Intron

NGF

Rs11102930

NC_000001.10:g.115881055G > A

Upstream variant 2 KB

115881055

1

Intergenic

RAD50

Rs2706347

NC_000005.9:g.131905117G > T

Intron variant

131905117

5

Intron

SPATS2L

Rs295137

NC_000002.11:g.201150040C > T

Upstream variant

201150040

2

Intergenic

TBXA2R

Rs4523

NC_000019.9:g.3595794A > G

Synonymous codon

3595794

19

Exon

TLR1

Rs4543123

NC_000004.11:g.38792524A > G

Downstream variant

38792524

4

Intergenic

TLR3

Rs1519309

NC_000004.11:g.187015089C > T

Downstream variant

187015089

4

Intergenic

 

Rs3775291

NC_000004.11:g.187004074C > T

Mis-sense

187004074

4

Exon

TLR4

Rs2737190

NC_000009.11:g.120464181G > A

Upstream variant

120464181

9

Intergenic

 

Rs4986790

NC_000009.11:g.120475302A > G

Mis-sense

120475302

9

Exon

 

Rs4986791

NC_000009.11:g.120475602C > T

Mis-sense

120475602

9

Exon

TLR5

Rs2241096

NC_000001.10:g.223310048G > A

Intron variant

223310048

5

Intron

TNFRSF1B

Rs1061622

NC_000001.10:g.12252955 T > G

Mis-sense

12252955

1

Exon

VEGFA

Rs833058

NC_000006.11:g.43731854C > T

Upstream variant

43731854

6

Intergenic

 

Rs2146323

NC_000006.11:g.43745095C > A

Intron variant

43745095

6

Intron

  1. Chr chromosome, HGVS Human Genome Variation Society - Genome Build 37.1 (http://www.ncbi.nlm.nih.gov); the position reflects the distance from short-arm telomere. Bp base pairs.