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Table 2 Association results of five novel SNPs in Phase 1, Phase 2, and the Phase 1 + 2 meta-analysis

From: Identification of five novel genetic loci related to facial morphology by genome-wide association studies

SNP CHR:Position(bp)a Geneb Coded allele Non-coded allele Facial traits Association results   Meta-analysis (Phase 1 + 2)
  AF beta ± se P-value   beta ± se P-value Q I2
rs7567283 2:19,595,772 OSR1-WDR35 G A Right facial angle of en-ex-go Phase 1 0.24 −0.572 ± 0.109 1.72 × 10−7   − 0.536 ± 0.096 2.75 × 10 −8 0.48 0.00
Phase 2 0.24 − 0.410 ± 0.205 0.046      
rs970797 2:176,820,065 HOXD1-MTX2 A C Tangent line angle of el3 Phase 1 0.33 0.017 ± 0.003 4.90 × 10 −8   0.015 ± 0.003 7.40 × 10 −9 0.29 12.52
Phase 2 0.34 0.011 ± 0.005 0.030      
Tangent line angle of er3 Phase 1 0.33 0.015 ± 0.003 4.51 × 10−7   0.015 ± 0.003 3.97 × 10 − 9 0.93 0.00
Phase 2 0.34 0.014 ± 0.005 0.003      
rs3736712 6:169,699,889 WDR27 C T Eye tail length Phase 1 0.37 0.322 ± 0.055 5.89 × 10 −9   0.293 ± 0.048 8.44 × 10 −10 0.30 6.92
Phase 2 0.38 0.208 ± 0.095 0.029      
rs2193054 17:67,537,404 SOX9 C G Profile nasal angle Phase 1 0.47 −0.007 ± 0.001 1.43 × 10 −11   −0.007 ± 0.001 6.17 × 10 − 17 0.22 33.67
Phase 2 0.46 −0.009 ± 0.002 4.60 × 10− 7      
Nasal tip protrusion Phase 1 0.47 0.019 ± 0.003 1.93 × 10 −8   0.017 ± 0.003 5.34 × 10 −9 0.23 31.80
Phase 2 0.46 0.011 ± 0.005 0.050      
rs2206437 20:37,426,155 DHX35 A T Subnasal width Phase 1 0.26 −0.272 ± 0.054 4.75 × 10− 7   − 0.283 ± 0.047 1.61 × 10 −9 0.69 0.00
Phase 2 0.28 − 0.316 ± 0.095 8.67 × 10−4      
  1. Bold and underlined text indicates genome-wide significant P values (5 × 10−8)
  2. CHR chromosome, AF coded allele frequency, Q P-value for Cochrane’s Q statistic, I2 heterogeneity index
  3. aPositions according to NCBI Build 36
  4. bGenes are defined as the gene within the SNP locates or genes closest to the SNP within a ±400-kb window when the SNP dose not locate within a gene
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BMC Genomics

ISSN: 1471-2164

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