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Table 2 Loci selected for association analysis in POF and controls.

From: ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure

All samples (371 cases and 800 controls)

Gene information

Phenotype related

CHR

BP

SNP

F_MISS

HWE_P

A1

F_A

F_U

A2

P

OR

  

3

12423994

rs4135280

0.008333

0.2789

C

0.2861

0.2738

T

0.5321

1.063

PPARG

AANM

5

6692179

rs494958

0.009167

0.3597

T

0.2263

0.2237

A

0.8881

1.015

SRD5A1

AANM

5

176247040

rs2278493

0.008333

0.08305

A

0.3451

0.3881

G

0.0432

0.8309

HK3

AANM

5

176255904

rs691141

0.0175

0.682

T

0.4747

0.4608

C

0.5302

1.057

HK3

AANM

5

176290671

rs7718874

0.01083

0.4156

T

0.4696

0.4765

C

0.7525

0.9726

RAP80

AANM

5

176311180

rs365132

0.0175

0.4133

C

0.4669

0.4744

A

0.7343

0.9704

RAP80

AANM

5

176367046

rs402511

0.01833

0.293

C

0.4707

0.4769

T

0.7792

0.9755

RAP80

AANM

5

176436169

rs244715

0.01083

0.3229

A

0.4842

0.4703

G

0.5254

1.058

intergenic

EM

6

11005474

rs2153157

0.0275

0.5569

G

0.3484

0.335

A

0.5233

1.061

SYCP2L

AANM

6

31648292

rs909253

0.01333

0.0382

C

0.4134

0.3829

T

0.1564

1.136

TNF

AANM

6

152205028

rs2234693

0.01

0.7176

C

0.3655

0.4217

T

0.009057

0.79

ESR1

POF/AANM

6

152205074

rs9340799

0.006667

0.7148

G

0.189

0.2016

A

0.4703

0.9228

ESR1

POF/AANM

6

152370309

rs1569788

0.008333

0.7268

T

0.453

0.474

C

0.338

0.9191

ESR1

POF/AANM

6

160419555

rs2297362

0.008333

0.9062

C

0.4301

0.4383

T

0.7047

0.9669

IGF2R

AANM

6

160423646

rs9457827

0.01417

0.9059

T

0.4312

0.4379

C

0.7602

0.9732

IGF2R

AANM

7

33351787

rs3884597

0.009167

0.222

T

0.467

0.4784

G

0.6047

0.9554

PTHB1

POF

7

33390485

rs6944723

0.01083

1

A

0.4459

0.4183

T

0.2051

1.119

PTHB1

POF

8

91019056

rs2697679

0.009167

0.5546

G

0.4195

0.437

T

0.4217

0.931

NBN

AANM

8

91082415

rs7011299

0.015

0.5509

G

0.4237

0.4202

C

0.8727

1.014

NBN

AANM

9

100955986

rs1590

0.0075

0.1803

G

0.4581

0.466

T

0.7184

0.9687

TGFBR1

AANM

11

30196754

rs11031010

0.0125

0.4482

A

0.04319

0.04047

C

0.7559

1.07

FSHB

AANM

11

112786283

rs6279

0.0075

0.05507

C

0.4619

0.4747

G

0.5609

0.9501

ANKK1

AANM

13

111017433

rs1361542

0.005833

0.396

A

0.03665

0.03391

G

0.7332

1.084

intergenic

AANM

13

111017854

rs1756091

0.006667

0.3965

A

0.03655

0.03461

C

0.8101

1.058

intergenic

AANM

13

111019298

rs7333181

0.0075

0.3965

A

0.03655

0.03465

G

0.8143

1.057

intergenic

AANM

13

111019632

rs1163623

0.003333

0.3965

C

0.03627

0.03457

T

0.8326

1.051

intergenic

AANM

15

49335997

rs11856927

0.005833

0.6833

C

0.4532

0.4641

A

0.6187

0.9572

CYP19A1

AANM

15

87670333

rs2351002

0.01083

0.5205

G

0.3521

0.3398

C

0.5542

1.056

POLG

AANM

18

44721958

rs4939833

0.0075

0.1067

G

0.03403

0.04203

A

0.3495

0.803

SMAD7

AANM

19

60492141

rs12611091

0.005833

0.8633

T

0.2422

0.2001

C

0.01892

1.278

BRSK1

AANM

19

60506693

rs1551562

0.01917

0.161

G

0.06016

0.06974

A

0.3858

0.8539

BRSK1

AANM

19

60511657

rs1172822

0.008333

0.384

T

0.0953

0.09046

C

0.7026

1.059

BRSK1

AANM

19

60516144

rs7246479

0.0075

0.4537

C

0.1929

0.1895

A

0.8435

1.022

BRSK1

AANM

19

60523000

rs2384687

0.006667

0.4769

C

0.08877

0.09023

T

0.9072

0.9822

TMEM150B

AANM

19

60525476

rs11668344

0.005833

0.4762

C

0.08724

0.08962

T

0.8488

0.9709

TMEM150B

AANM

19

60525566

rs897798

0.0075

0.6029

C

0.08924

0.09383

T

0.7183

0.9463

TMEM150B

AANM

11

30203352

rs621686

0.01417

1

G

0.002653

0.00062

A

0.1956

4.285

FSHB

AANM

11

30218544

rs7951733

0.003333

1

G

0

0.000617

A

0.4899

0

FSHB

AANM

11

100477546

rs619487

0.003333

1

C

0.003886

0.006173

A

0.4769

0.6281

PGR

AANM

12

101388555

rs1019731

0.0075

1

T

0.002611

0.003094

G

0.8388

0.8435

IGF1

AANM

20

5896227

rs16991615

0.01167

1

A

0.001316

0.001241

G

0.9617

1.061

MCM8

EM

  1. CRH: Chromosome; SNP: Single-nucleotide polymorphism; HWE_P: Hardy-Weinberg principle; F_A, F_U indicate the allele frequency in cases and controls, respectively