Table 1 Single nucleotide polymorphisms (SNPs) in ESR1 and ESR2 genes associated with PCOS addressed in present study

ESR1

 1

rs1583384537

Missense

22

GAG > AAG

E > K

0

0.994

32

 2

rs1554259481

Stop gained

61

GAG > TAG

E > *

-

-

-

 3

rs104893956

Stop gained

157

CGA > TGA

R > *

-

-

-

 4

rs761613029

Missense

218

GAC > AAC

D > N

0.04

1

31

 5

rs778449608

Missense

247

GAA > AAA

E > K

0

0.995

32

 6

rs866869178

Missense

259

CGA > CAA

R > Q

0

0.97

31

 7

rs188957694

Missense

269

CGC > CCC

R > P

0.01

0.947

32

 8

rs755667747

Frame shift

293

CCA > CA

P > X

-

-

-

 9

rs1467954450

Frame shift

325

CCG > CC

P > X

-

-

-

 10

rs1584799119

Missense

374

GAT > AAT

D > N

0.01

0.992

31

 11

rs1131692059

Missense

394

CGC > CAC

R > H

0

0.999

31

 12

rs762742833

Stop gained

477

CGA > TGA

R > *

-

-

-

 13

rs758798083

Missense

519

AAC > GAC

N > D

0.01

0.955

32

 14

rs1253340312

Frame shift

570

ACT > AC

T > X

-

-

-

 15

rs1436999383

Stop gained

587

GAG > TAG

E > *

-

-

-

ESR2

 1

rs1463893698

Stop gained

72

CAG > TAG

Q > *

-

-

-

 2

rs140630557

Stop gained

133

TGC > TGA

C > *

-

-

-

 3

rs1450198518

Missense

171

GCC > TCC

A > S

0

1

31

 4

rs754945292

Missense

187

GCT > GGT

A > G

0

0.967

33

 5

rs1596423459

Stop gained

201

TGC > TGA

C > *

-

-

-

 6

rs766843910

Stop gained

237

GAG > TAG

E > *

-

-

-

 7

rs1596405923

Frame shift

316

ATT > AT

I > X

-

-

-

 8

rs762454979

Frame shift

331

TTG > TG

L > X

-

-

-

 9

rs1384121511

Stop gained

347

TCA > TAA

S > *

-

-

-

 10

rs1249242790

Missense

380

CTC > CCC

L > P

0

0.998

31

 11

rs1414263985

Missense

396

GAA > AAA

E > K

0

1

32

 12

rs78255744

Missense

408

TCC > TTC

S > F

0

0.999

33

 13

rs768924970

Missense

454

CGC > TGC

R > C

0

1

32

 14

rs1257844897

Frame shift

466

AGG > AG

R > X

-

-

-

 15

rs200502775

Stop gained

525

CAG > TAG

Q > *

-

-

-