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Table 1 Polycystic Ovarian Syndrome (PCOS) CRHR1 and CRHR2-Risk Single Nucleotide Polymorphisms (SNPs)

From: Novel corticotropin-releasing hormone receptor genes (CRHR1 and CRHR2) linkage to and association with polycystic ovary syndrome

Gene

Modela

SNP

Position

Ref

Alt

Risk Allele

Consequence

LD block

Reported in PCOS?

CRHR1

D2

rs7209436

45,792,776

C

T

T

Intronic

Set06

Novel

 

R1

rs56319902

45,794,616

C

T

T

Intronic

Set02

Novel

 

D1, D2, R1

rs62057097

45,795,918

C

T

C

Intronic

Independent

Novel

 

R1

rs80184151

45,801,942

A

G

G

Intronic

Set02

Novel

 

D2, R1

rs110402

45,802,681

G

A

A

Intronic

Set06

Novel

 

R1

rs17689378

45,804,424

C

T

T

Intronic

Set02

Novel

 

D2

Chr17-45,808,001-G-A

45,808,001

G

A

A

Intronic

NA

Novel

 

D2, R1

Chr17-45,811,500-C-A

45,811,500

C

A

A

Intronic

NA

Novel

 

D1, D2, R1

rs242941

45,815,154

A

C

C

Intronic

Independent

Novel

 

D2, R1

Chr17-45,815,234-A-C

45,815,234

A

C

C

Intronic

NA

Novel

 

D2, R1

rs171440

45,816,121

G

A

A

Intronic

Independent

Novel

 

R1

Chr17-45,816,793-C-A

45,816,793

C

A

A

Intronic

NA

Novel

 

R1

rs62057144

45,824,192

A

G

G

Intronic

Set02

Novel

 

R1

Chr17-45,825,433-A-C

45,825,433

A

C

C

Intronic

NA

Novel

 

R1

Chr17-45,825,476-C-A

45,825,476

C

A

A

Intronic

NA

Novel

 

R1

Chr17-45,825,578-C-A

45,825,578

C

A

A

Intronic

NA

Novel

 

R1

Chr17-45,825,723-C-A

45,825,723

C

A

A

Intronic

NA

Novel

 

R1

Chr17-45,827,031-C-A

45,827,031

C

A

A

Intronic

NA

Novel

 

R1

rs17689882

45,829,462

G

A

A

Intronic

Set02

Novel

 

R1

Chr17-45,830,785-C-A

45,830,785

C

A

A

Intronic

NA

Novel

 

D2

Chr17-45,834,350-G-A

45,834,350

G

A

A

Intronic

NA

Novel

 

R1

Chr17-45,834,916-C-A

45,834,916

C

A

A

3’-UTR

NA

Novel

CRHR2

R2

rs7793837

30,687,161

A

T

T

Intronic

Independent

Novel

  1. aModels: D1: dominant, complete penetrance, D2: dominant, incomplete penetrance, R1: recessive, complete penetrance, R2: recessive, incomplete penetrance; 3’-UTR is the 3’ untranslated region