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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.