Table 1 Twelve reported SNPs that met the validation criteria, 11 of which were included in the following validation.

From: Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate

Cytoband

Published SNPs*

Ref

P published

Tag SNP

P our §

Validated SNPs

1p31.1

rs1417437

39

3 × 10−6

rs227115

3.50 × 10−2

rs1417437

1p22.1

rs560426

12

3 × 10−12

rs560426

1.24 × 10−2

rs560426

1q32.2

rs10863790

10

1 × 10−14

rs10863790

1.90 × 10−8

rs2235371

1q32.2

rs642961 (rs861020)

12

3 × 10−12

rs861020

1.61 × 10−5

rs674433

2p24.2

rs4441471

12

8 × 10−7

rs10856790

4.34 × 10−4

rs4441471

2q35

rs3815854

12

7 × 10−6

rs16860316

3.99 × 10−4

rs3815854

8q21.13

rs7820074

12

9 × 10−6

rs11774876

4.49 × 10−3

rs7820074

8q21.3

rs12543318

12

2 × 10−8

rs2337161

3.37 × 10−4

rs12543318

10q25.3

rs7078160

9,12

4 × 10−11

rs10510026

1.05 × 10−5

rs7078160

13q12.12

rs17079928

39

6 × 10−6

rs17079928

2.53 × 10−2

rs17079928

17q22

rs227731

9,12

1 × 10−8

rs227731

7.27 × 10−4

rs227731

20q12

rs13041247

12

6 × 10−9

rs6072084

2.01 × 10−3

rs13041247

  1. GWAS, genome-wide association study; LD, linkage disequilibrium; SNP, single-nucleotide polymorphism.
  2. *SNPs from GWAS catalogue (search key word: cleft lip).
  3. P values of published SNPs from GWAS catalogue.
  4. For SNPs without data in initial GWAS scan, we selected tag SNPs that were in LD with published SNPs (r2>0.8).
  5. §P value from meta-analysis of two cohorts in the initial discovery phase (logistic regression).