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Table 1 Polymorphic variants detected within BMP4.1 and BMP4.2 in NSCLP cases and controls

From: Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population

Promoter

Polymorphism

Genetic position

Chromosome positiona

Variation

MAFb

Odds Ratio (95% C.I.)

p-value

     

Cases

Controls

  

BMP4.1

rs2855527

c.-5729

54424669

T > G

0.0032

0.0030

1.04 (0.09-11.55)

0.972

 

rs77671695

c.-5098

54424038

T > G

0.040

0.055

0.72 (0.37-1.38)

0.322

 

delAACCCGGG

c.-3066_c.-3059

54422006-54421999

ins > del

0.039

0.059

0.65 (0.33-1.27)

0.202

 

rs2855530

c.-2977

54421917

C > G

0.418

0.369

1.23 (0.93-1.62)

0.146

BMP4.2

rs113141288

c.-2932

54421872

G > T

0.041

0.052

0.78 (0.41-1.50)

0.455

 

rs76953585

c.-2679

54421619

C > T

0.044

0.054

0.79 (0.42-1.50)

0.484

 

rs113562279

c.-2608

54421548

G > T

0.038

0.052

0.70 (0.35-1.37)

0.295

  1. a Chromosome position according to genome assembly GRCh37.
  2. b MAF: Minor allele frequency.