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Table 1 Polycystic ovary syndrome (PCOS) melanocortin receptor genes risk single nucleotide polymorphisms (SNPs)

From: The melanocortin receptor genes are linked to and associated with the risk of polycystic ovary syndrome in Italian families

Gene

Model1

SNP

Position

REF

ALT

Risk allele

Consequence

LD block

Reported?

MC1R

D1,R1,R2

rs1805005

16:89919436

G

T

G

Missense (p.R151G)

Independent

T2D [14]

MC2R

R1,R2

rs28926173

18:13886720

G

A

A

Intronic

Independent

Novel

MC3R

D2,R1

rs3746619

20:56248749

C

A

C

5’-UTR

Set01

T2D [14]

D2,R1,R2

rs3827103

20:56248973

G

A

G

Missense (p.V44I)

Set01

T2D [14]

MC5R

D2

rs59999658

18:13824728

T

G

T

Intronic

NA

Novel

D1,R1

rs2236700

18:13826392

C

G

C

Missense (p.F209L)

Independent

MDD [14]

  1. Legend: 1Models: D1: dominant, complete penetrance, D2, dominant, incomplete penetrance: R1: recessive, complete penetrance, R2: recessive, incomplete penetrance. LD: linkage-disequilibrium block