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Table 2 Main characteristics of the selected tagging SNPs in HPS4

From: Association of the Hermansky–Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects

No.

SNP (major/minor allele)

Localization (Residue Change)

 

HWE P-value

MAF

1

rs4822724 (A/G)

5′-flanking region

Cases

0.0139

0.488

   

Controls

0.2472

0.485

2

rs612768431 (Del/Ins)

5′-flanking region

Cases

0.3959

0.133

   

Controls

1.0000

0.121

3

rs9608491 (T/C)

intron 4

Cases

1.0000

0.179

   

Controls

0.0569

0.188

4

rs713998 (G/A)

exon 9 (p.G229E)

Cases

0.1517

0.233

   

Controls

0.8529

0.225

5

rs2014410 (C/G)

exon 11 (p.L443V)

Cases

0.1900

0.271

   

Controls

0.0014

0.285

  1. 121-base deletion/insertion (Del/Ins) polymorphism.
  2. HWE: Hardy–Weinberg equilibrium test.
  3. MAF: minor allele frequency.