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Table 1 Association results for the three stages and the meta-analysis at the 12q13.13 locus

From: Genome-wide association study in Chinese cohort identifies one novel hypospadias risk associated locus at 12q13.13

SNP

Risk Allele

Location

Attributed genes

Study

RAFa

OR(95% CI)b

P valueb

Phetc

Cases

Controls

rs11170516

G

12:53752692

SP1, SP7

Discovery stage

0.888

0.779

2.27(1.64–3.23)

1.6 × 10− 6

0.52

    

Replication 1

0.871

0.798

1.69(1.14–2.63)

1.3 × 10−2

    

Replication 2

0.865

0.783

1.79(1.16–2.63)

8.0 × 10−3

    

Meta-analysis

0.877

0.784

1.96(1.59–2.44)

3.5 × 10−9

  1. aRisk allele frequency (RAF)
  2. bORs, 95% CIs and corresponding P values in additive model were estimated using a logistic regression model
  3. cP value of Cochran’s Q-test for the heterogeneity