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Table 2 Rare variants identified in ZNF750

From: Association analysis identifies ZNF750 regulatory variants in psoriasis

Name

Position

Property (PolyPhen2 impact)

Alleles

F_case

F_control

Fisher P

Novel_1 (c.-597C>T)

78391506

Promoter

C/T

0 of 1312

1 of 745

0.363

Novel_2 (c.-458G>A)

78391367

Promoter

G/A

1 of 1309

0 of 746

1.000

Novel_3 (c.-261G>A)

78391170

Exon 1, 5' UTR

G/A

1 of 1309

0 of 746

1.000

Novel_4 (c.-233 C>T)

78391142

Exon 1, 5' UTR

C/T

4 of 1306

0 of 746

0.303

Novel_5 (c.-232G>A)

78391141

Exon 1, 5' UTR

G/A

1 of 1311

0 of 746

1.000

Novel_6 (c.-45G>C)

78383664

Exon 2, 5' UTR

G/C

1 of 1349

0 of 746

1.000

Novel_7 (c.-36A>G)

78383655

Exon 2, 5' UTR

A/G

1 of 1349

0 of 746

1.000

Novel_8 (c.-32G>A)

78383651

Exon 2, 5' UTR

G/A

1 of 1349

0 of 746

1.000

Novel_9

78383521

Exon 2, T33T

T/C

1 of 1349

0 of 746

1.000

Novel_10

78383438

Exon 2, R61Q (possibly)

G/A

2 of 1348

1 of 745

1.000

Novel_11

78383402

Exon 2, P73L (probably)

C/T

0 of 1350

1 of 745

0.357

Novel_12

78383393

Exon 2, T76I (benign)

C/T

0 of 1350

1 of 745

0.357

Novel_13

78383325

Exon 2, D99N (probably)

G/A

1 of 1349

1 of 745

1.000

Novel_14

78383272

Exon 2, E116E

G/A

1 of 1349

0 of 746

1.000

Novel_15

78383216

Exon 2, A135E (benign)

C/A

0 of 1350

1 of 745

0.357

Novel_16

78383196

Exon 2, A142T (possibly)

G/A

1 of 1349

0 of 746

1.000

Novel_17

78382899

Exon 2, E241Q (probably)

G/C

1 of 1357

0 of 752

1.000

Novel_18

78382882

Exon 2, F246F

T/C

0 of 1358

1 of 751

0.356

rs35283702

78382791

Exon 2, G277R (probably)

G/A

15 of 1343

7 of 745

0.825

Novel_19

78382759

Exon 2, H287Q (possibly)

C/G

1 of 1357

0 of 752

1.000

Novel_20

78382489

Exon 2, F377L (benign)

C/G

0 of 1374

1 of 763

0.359

rs34687659

78382445

Exon 2, Q392R (possibly)

A/G

0 of 1374

1 of 763

0.359

Novel_21

78382401

Exon 2, A407T (probably)

G/A

1 of 1373

0 of 764

1.000

Novel_22

78382375

Exon 2, P415P

G/A

2 of 1372

2 of 762

0.622

Novel_23

78382326

Exon 2, D432H (possibly)

G/C

2 of 1372

0 of 764

0.540

Novel_24

78382188

Exon 2, V478I (benign)

G/A

0 of 1374

1 of 763

0.359

Novel_25

78382160

Intron 2

C/A

1 of 1373

0 of 764

1.000

Novel_26

78382155

Intron 2

A/C

1 of 1373

0 of 764

1.000

Novel_27

78382047

Intron 2, 5 bp from exon 3

T/C

1 of 1373

0 of 764

1.000

rs35792712

78382015

Exon 3, P488P

T/G

0 of 1374

1 of 763

0.359

Novel_28

78381714

Exon 3, G589R (benign)

G/C

1 of 1365

0 of 766

1.000

Novel_29

78381508

Exon 3, A657A

G/A

1 of 1365

0 of 766

1.000

Novel_30

78381034

Exon 3, 3' UTR

G/A

1 of 1357

0 of 756

1.000

Novel_31

78380851

Exon 3, 3' UTR

A/G

1 of 1365

2 of 752

0.290

Novel_32

78380743

Exon 3, 3' UTR

A/G

2 of 1364

0 of 754

0.541

Novel_33

78380697

Exon 3, 3' UTR

T/G

1 of 1365

0 of 754

1.000

Novel_34

78380590

3' Downstream

T/C

2 of 1318

1 of 751

1.000

Novel_35

78380548

3' Downstream

G/A

17 of 1305

9 of 743

1.000

  1. Rare variants are defined as those with minor allele frequency (MAF) < 2% in controls. SNPs Novel_1 through Novel_8 are additionally named by the nucleotide position relative to the translation start site with respect to the cDNA reference. Position is on Chr17 (hg18). UTR, untranslated region. PolyPhen2 impact given as benign, possibly damaging, or probably damaging. Alleles are given as major/minor on the (-) strand. F_case, MAF in cases; F_control, MAF in controls.