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Table 1 Single variant analysis of variants significantly associated with AMD risk

From: Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

 

Original study

Association with AMD

Frequency in

 

Variant

Chromo some

Position [hg19]

Phenotype

Locus name

Locus boundary in 1 M bp [hg19]

Effect allelea

Effect sizea

Odds ratio

95% CIb

p value raw

p value adjc

Q-value raw

Q-value adjc

Controls

Cases

Imputation quality

rs7523273

1

207977083

SCZ

CD46/CR1L

207.8–208.1

A

1.063 (OR)

1.078

1.042-1.116

1.37E-05

2.51E-05

0.0009

5.91E-05

0.667

0.681

0.972

rs1550094

2

233385396

MYP

PRSS56

233.3–233.5

G

1.087 (HR)

1.067

1.030-1.106

0.0003

0.0019

0.0093

0.0021

0.290

0.304

0.867

rs9844666

3

135974216

HGT

STAG1

135.5–136.9

G

1.024 (SL)

1.079

1.039-1.120

6.70E-05

0.0002

0.0029

0.0003

0.753

0.768

0.999

rs7432375

3

136288405

SCZ

STAG1

135.5–136.9

G

1.073 (OR)

0.942

0.911-0.973

0.0003

0.0004

0.0095

0.0005

0.605

0.593

0.999

rs13091182

3

141133960

MYP

ZBTB38

141–141.3

G

1.064 (OR)

0.929

0.898-0.960

1.65E-05

5.65E-06

0.0010

2.26E-05

0.668

0.651

0.996

rs3774959

4

103511114

UC

NFKB1

103.3–103.6

A

1.119 (OR)

0.928

0.898-0.959

1.11E-05

4.44E-07

0.0007

7.71E-06

0.357

0.341

0.964

rs2277027

5

156932376

LGF

ADAM19

156.8–157.1

A

1.462 (SL)

1.096

1.059-1.133

1.31E-07

2.75E-06

1.50E-05

1.28E-05

0.651

0.667

1.000

rs2814982

6

34546560

TC

C6ORF106

34.4–34.9

C

1.045 (SL)

1.118

1.061-1.178

2.67E-05

4.82E-05

0.0014

0.0001

0.889

0.898

0.980

rs2207139

6

50845490

BMI

TFAP2B

50.7–51

G

1.046 (SL)

0.921

0.883-0.961

0.0001

0.0004

0.0058

0.0006

0.179

0.165

0.997

rs11776767

8

10683929

TG

PINX1

10.5–10.8

C

1.022 (OR)

0.936

0.905-0.967

8.83E-05

0.0089

0.0037

0.0089

0.380

0.370

0.999

rs3217992

9

22003223

CAD

CDKN2B

21.9–22.2

T

1.160 (OR)

0.914

0.884-0.945

1.07E-07

1.18E-05

1.35E-05

3.67E-05

0.394

0.375

1.000

rs7865618

9

22031005

ODCA; VCDR

CDKN2B

21.9–22.2

A

1.023 (SL)

0.937

0.907-0.968

9.23E-05

6.12E-05

0.0037

0.0001

0.593

0.579

1.000

rs7866783

9

22056359

POAG

CDKN2B

21.9–22.2

G

1.451 (OR)

0.936

0.906-0.967

6.67E-05

2.53E-05

0.0029

5.91E-05

0.594

0.579

0.995

rs11191548

10

104846178

BP

NT5C2

104.4–105.2

T

2.989 (SL)

0.902

0.853-0.954

0.0003

0.0012

0.0092

0.0014

0.914

0.906

1.000

rs11191560

10

104869038

BMI

NT5C2

104.4–105.2

C

1.031 (SL)

1.110

1.049-1.173

0.0003

0.0012

0.0087

0.0014

0.086

0.094

0.996

rs634552

11

75282052

HGT

SERPINH1

75.2–75.4

T

1.040 (SL)

1.120

1.069-1.173

2.08E-06

1.47E-05

0.0002

4.11E-05

0.130

0.144

0.999

rs11830103

12

123823546

HGT

SBNO1

123.3–124

G

1.036 (SL)

1.082

1.040-1.125

9.13E-05

0.0028

0.0037

0.0029

0.205

0.216

1.000

rs4901977

14

60789176

VCDR

SIX6

60.7–61.3

T

1.011 (SL)

0.927

0.895-0.959

1.56E-05

8.40E-06

0.0010

2.94E-05

0.319

0.306

0.996

rs2093210

14

60957279

HGT

SIX6

60.7–61.3

C

1.033 (SL)

0.920

0.890-0.950

5.00E-07

1.37E-06

4.34E-05

7.71E-06

0.417

0.401

0.997

rs33912345

14

60976537

POAG

SIX6

60.7–61.3

C

1.320 (OR)

0.919

0.889-0.949

3.51E-07

1.19E-06

3.21E-05

7.71E-06

0.413

0.397

1.000

rs10483727

14

61072875

ODCA

SIX6

60.7–61.3

T

1.026 (SL)

0.915

0.886-0.946

1.11E-07

1.06E-06

1.35E-05

7.71E-06

0.414

0.396

0.999

rs1555399

14

67984370

PD

PLEKHH1

67.9–68.1

T

1.115 (OR)

0.929

0.899-0.959

6.27E-06

0.0002

0.0004

0.0003

0.517

0.502

0.997

rs11627032

14

93104072

BRC

RIN3

93–93.2

T

1.060 (OR)

1.070

1.032-1.109

0.0002

0.0014

0.0086

0.0015

0.728

0.739

0.931

rs1378942

15

75077367

BP

CSK

74.9–75.3

C

1.846 (SL)

0.918

0.887-0.950

8.52E-07

1.38E-06

7.06E-05

7.71E-06

0.345

0.328

1.000

rs2290400

17

38066240

T1D

GSDMB

37.8–38.2

C

1.080 (OR)

1.068

1.034-1.103

5.47E-05

7.29E-05

0.0026

0.0001

0.494

0.508

1.000

rs9303280

17

38074031

ALG

GSDMB

37.8–38.2

C

1.070 (SL)

0.941

0.911-0.971

0.0002

0.0001

0.0068

0.0002

0.510

0.497

0.984

rs386000

19

54792761

HDL

LILRA3

54.7–54.9

C

1.049 (SL)

1.096

1.053-1.141

6.24E-06

0.0006

0.0004

0.0008

0.199

0.211

0.782

rs1547014

22

29100711

VCDR

CHEK

28.5–29.2

C

1.013 (SL)

0.936

0.904-0.969

0.0002

6.78E-05

0.0068

0.0001

0.708

0.695

0.999

  1. aRisk-/trait-increasing allele and effect size in the original study (OR odds ratio, SL slope, HR hazard ratio) (see Additional file 2: Table S1 for further details)
  2. b95% CI = 95% confidence interval of AMD OR estimate
  3. cAssociation of variant adjusted for 52 AMD-associated risk variants