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Table 1 Studied genetic polymorphisms

From: Association between craniofacial morphological patterns and tooth agenesis-related genes

Gene

Locus

Reference sequence

Type of alteration

Base change (context sequence)

Global MAF

MSX1

4p16.2

rs1042484

Intron variant

TCC[A/G]ATG

0.1464/733

PAX9

14q13.3

rs8004560

Intron variant

TAA[A/G]TAT

0.3714/1860

TGFa

2p13.3

rs2902345

Intron variant

GGT[C/T]GCC

0.4022/2014

FGF3

11q13.3

rs1893047

Intron variant

CAC[A/G]TGA

0.4545/2276

FGF10

5p12

rs900379

Intron variant

CCT[C/T]ATA

0.4661/2334

FGF13

Xq26.3

rs12838463

Intron variant

ATC[A/G]TAG

0.4437/1675

FGF13

Xq27.1

rs5931572

Intron variant

ATT[A/G]TTT

0.4575/1727

FGF13

Xq27.1

rs5974804

Intron variant

CAT[C/T]GGT

0.4967/1875

  1. Source of information: dbSNP from: https://www.ncbi.nlh.nih.gov/snp/, http://genome.uscs.edu/, and https://www.thermofisher.com
  2. Bold: lower frequency allele