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Table 1 Characteristics of all genotyped SNPs

From: Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study

Gene

(Alias)

Marker

Chromosome

Chromosome position

RefSNP alleles

Call Rate

(%)

MAF*

(All subjects)

HWE P

(controls)

MAF

(White)

HWE** P

(White controls)

MAF

(Hispanic)

HWE P

(Hispanic controls)

ALX1 (CART1)

rs11608773

12

84229006

A/G

100.0

0.229

0.435

0.274

0.478

0.217

0.391

 

rs4761130

12

84226396

C/T

99.8

0.421

0.286

0.358

0.154

0.401

0.465

 

rs7295242

12

84222948

A/G

100.0

0.161

0.781

0.074

0.557

0.159

0.358

CARM1

rs11667234

19

10880581

A/C

99.8

0.021

0.010

0.039

0.071

0.016

0.934

 

rs11670365

19

10865833

C/T

100.0

0.056

0.918

0.084

0.754

0.045

0.702

 

rs1529711

19

10884434

A/G

99.7

0.097

0.492

0.161

0.932

0.081

0.519

 

rs1541596

19

10848013

A/G

99.5

0.475

0.326

0.497

0.969

0.408

0.957

 

rs17616105

19

10883159

C/T

100.0

0.189

0.732

0.235

0.365

0.152

0.072

 

rs7254708

19

10863579

A/G

100.0

0.071

0.043

0.123

0.116

0.059

0.441

CITED2

rs1131431

6

139735527

A/G

100.0

0.153

0.273

0.200

0.624

0.121

0.948

 

rs7775752

6

139737486

A/G

45.1

0.007

0.957

0.009

0.913

0.006

1.000

CREBBP (CBP)

rs11076783

16

3722706

C/T

100.0

0.154

0.638

0.116

0.142

0.139

0.802

 

rs11076785

16

3730187

G/T

46.6

0.457

0.638

0.401

0.185

0.457

0.463

 

rs11076786

16

3751597

C/T

100.0

0.075

0.008

0.077

0.441

0.046

0.637

 

rs129986

16

3744242

C/T

100.0

0.023

0.530

0.032

0.590

0.020

0.735

 

rs130003

16

3768173

A/G

99.8

0.015

0.792

0.032

0.711

0.010

0.967

 

rs130008

16

3721953

C/G

99.8

0.011

0.838

0.032

0.752

0.001

1.000

 

rs17136507

16

3740546

C/T

100.0

0.178

0.536

0.110

0.229

0.227

0.449

 

rs886528

16

3751557

C/T

99.7

0.383

0.590

0.390

0.986

0.368

0.839

 

rs9392

16

3715170

A/G

99.8

0.189

0.566

0.223

0.625

0.138

0.700

EP300 (P300)

rs17002284

22

39826792

A/G

100.0

0.265

0.220

0.313

0.745

0.217

0.522

 

rs17433014

22

39829768

A/G

99.8

0.018

0.769

0.029

0.793

0.019

0.834

 

rs2230111

22

39851949

A/G

99.8

0.002

0.977

0.006

0.959

1.000

1.000

 

rs4820428

22

39867535

A/G

100.0

0.446

0.006

0.329

0.822

0.419

0.667

 

rs4820429

22

39868057

C/G

100.0

0.159

0.382

0.258

0.040

0.124

0.471

 

rs4822006

22

39849308

C/T

100.0

0.247

0.844

0.355

0.587

0.185

0.740

 

rs5758246

22

39871792

A/G

100.0

0.030

0.635

1.000

1.000

0.012

0.934

 

rs9611502

22

39861182

C/T

100.0

0.014

0.838

0.019

0.918

0.013

0.867

TFAP2A (AP2)

rs10456013

6

10506548

G/T

100.0

0.032

0.592

0.048

0.670

0.026

0.735

 

rs1621700

6

10528084

A/G

99.7

0.288

0.671

0.252

0.081

0.357

0.773

 

rs303050

6

10511169

C/T

100.0

0.257

0.061

0.165

0.259

0.262

0.267

 

rs303055

6

10527462

C/T

100.0

0.353

0.150

0.435

0.569

0.335

0.025

 

rs303056

6

10528467

C/G

100.0

0.159

0.229

0.094

0.477

0.126

1.000

 

rs3798691

6

10519381

C/G

100.0

0.112

0.021

0.042

0.011

0.134

0.111

 

rs3798694

6

10516743

A/G

100.0

0.062

0.122

0.087

0.225

0.059

0.293

 

rs533558

6

10503558

A/G

100.0

0.441

0.848

0.361

0.955

0.481

0.858

 

rs537112

6

10503192

A/G

100.0

0.180

0.571

0.103

0.754

0.195

0.255

  1. *MAF: minor allele frequency; **HWE: Hardy-Weinberg Disequilibrium