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Table 1 Allele frequency of Axin2 (c.1181G > A: p.R394H, rs200899695) in human populations (dbGaP, Release Version: 20,200,227,123,210)

From: An Axin2 mutation and perinatal risk factors contribute to sagittal craniosynostosis: evidence from a Chinese female monochorionic diamniotic twin family

Study

Population

Sample size

Ref Allele

Alt Allele

BioProject ID

BioSample ID

gnomAD—Exomes

Global

250,890

G = 0.999151

A = 0.000849

PRJNA398795

SAMN07488253

gnomAD—Exomes

European

134,850

G = 0.999993

A = 0.000007

 

SAMN10181265

gnomAD—Exomes

Asian

49,008

G = 1.00000

A = 0.00000

  

gnomAD—Exomes

American

34,584

G = 0.99396

A = 0.00604

 

SAMN07488255

gnomAD—Exomes

African

16,244

G = 1.00000

A = 0.00000

 

SAMN07488254

gnomAD—Exomes

Ashkenazi Jewish

10,072

G = 1.00000

A = 0.00000

 

SAMN07488252

gnomAD—Exomes

Other

6132

G = 0.9995

A = 0.0005

 

SAMN07488248

ExAC

Global

120,894

G = 0.999363

A = 0.000637

PRJEB8661

SAMN07490465

ExAC

Europe

72,950

G = 0.99999

A = 0.00001

  

ExAC

Asian

25,152

G = 1.00000

A = 0.00000

  

ExAC

American

11,542

G = 0.99342

A = 0.00658

  

ExAC

African

10,358

G = 1.00000

A = 0.00000

  

ExAC

Other

892

G = 1.000

A = 0.000

 

SAMN07486028

ALFA

Total

62,874

G = 0.99992

A = 0.00008

PRJNA507278

SAMN10492705

ALFA

European

59,864

G = 0.99995

A = 0.00005

 

SAMN10492695

ALFA

Other

2654

G = 0.9992

A = 0.0008

 

SAMN11605645

ALFA

African

242

G = 1.000

A = 0.000

 

SAMN10492703

ALFA

Asian

78

G = 1.00

A = 0.00

 

SAMN10492704

ALFA

Latin American 2

22

G = 1.00

A = 0.00

 

SAMN10492700

ALFA

South Asian

8

G = 1.0

A = 0.0

 

SAMN10492702

ALFA

Latin American 1

6

G = 1.0

A = 0.0

 

SAMN10492699