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Table 3 Sensitivity analysis examining alternate phenotypes omitting the most- or least-strongly loading diagnoses

From: Efficient Genome-wide Association in Biobanks Using Topic Modeling Identifies Multiple Novel Disease Loci

Topic #

Topic name

CHR

SNP

P value Full topic (all diagnoses)

P values in sensitivity analysis

     

Topic head (diagnoses loading ≥0.01)

Topic tail (diagnoses loading ≤0.05)

Single diagnosis (only top diagnosis)

19

Pulmonary disease and cystic fibrosis-plus

7

7:117277554

1.049E-42

1.121E-4

7.178E-11

0.02882

19

Pulmonary disease and cystic fibrosis-plus

7

7:116967838

3.005E-32

1.686E-3

4.765E-3

0.0518

09

Anemia and fracture-plus

4

4:12459496

5.985E-29

0.3539

6.102E-51

*

24

Rheumatoid arthritis-plus

6

6:32570417

2.14E-28

2.895E-20

0.2878

7.586E-19

16

Pregnancy complications-plus

5

5:32198317

2.852E-20

0.1513

6.545E-44

*

19

Pulmonary disease and cystic fibrosis-plus

7

7:117220403

2.055E-19

4.268E-4

1.114E-08

0.05133

22

Uterine neoplasm-plus

14

14:62132727

3.294E-19

0.2401

0.7799

6.231E-3

07

Viral-plus

14

14:57647875

7.58E-19

0.3954

0.3554

*

22

Uterine neoplasm-plus

6

6:148020784

7.105E-18

0.5184

3.387E-3

5.874E-3

24

Rheumatoid arthritis-plus

6

6:32681992

9.832E-18

4.413E-14

0.2

4.409E-11

40

Neoplasm-plus

3

3:1145301

1.962E-17

9.212E-4

3.945E-6

0.01377

22

Uterine neoplasm-plus

2

2:209079758

7.645E-17

0.1993

0.8465

*

01

Adrenal and electrolyte-plus

4

4:41059660

1.813E-16

0.01646

0.1058

*

22

Uterine neoplasm-plus

4

4:84272944

1.993E-16

0.02548

0.8802

*

25

Pituitary and adrenal disease-plus

18

18:25741737

3.269E-16

0.06459

0.078

0.07633

24

Rheumatoid arthritis-plus

6

6:32303848

3.558E-16

5.129E-14

0.118

3.344E-13

07

Viral-plus

8

8:58987251

4.165E-16

0.01557

0.8416

0.09888

  1. *Sparseness of single diagnosis code and low MAF precludes estimate.