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Table 1 Loci associated with a topic with p < 1e-15

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

Topic #

Topic name

CHR

SNP

p value

A1

A2

MAF

SNPs in locusA

Locus range

Genes in locusB

GWAS catalogC

19

Pulmonary disease and cystic fibrosis-plus

7

7:117277554

1.049E-42

T

A

0.023

25

chr7:117041941..117357607

[ASZ1, CFTR, CTTNBP2]

Cystic fibrosis; esophageal cancer (PMID: 27527254)

19

Pulmonary disease and cystic fibrosis-plus

7

7:116967838

3.005E-32

A

C

0.026

18

chr7:116806103..117217725

[ASZL CFTR, ST7, ST7-OT3, WNT2]

Cystic fibrosis; esophageal cancer (PMID: 27527254)

09

Anemia and fracture-plus

4

4:12459496

5.985E-29

G

C

0.010

10

chr4:12459496..12585393

[]

None

24

Rheumatoid arthritis-plus

6

6:32570417

2.14E-28

C

A

0.167

759

chr6:32326531..32685550

[HLA region]

Rheumatoid arthritis

16

Pregnancy complications-plus

5

5:32198317

2.852E-20

C

T

0.010

4

chr5:32006737..32198317

[GOLPH3, PDZD2]

Myocardial infarction (PMID: 26708285)

19

Pulmonary disease and cystic fibrosis-plus

7

7:117220403

2.055E-19

G

A

0.108

69

chr7:116971883..117223764

[ASZ1 CFTR]

Cystic fibrosis; esophageal cancer (PMID: 27527254)

22

Uterine neoplasm-plus

14

14:62132727

3.294E-19

A

G

0.018

11

chr14:62109231..62160023

[FU22447, HIF1A-AS1]

None

07

Viral-plus

14

14:57647875

7.58E-19

G

T

0.010

2

chr14:57647875..57649586

[]

None

22

Uterine neoplasm-plus

6

6:148020784

7.105E-18

G

A

0.010

54

chr6:147998800..148177349

[]

None

24

Rheumatoid arthritis-plus

6

6:32681992

9.832E-18

C

T

0.202

211

chr6:32433759..32682043

[HLA region]

Rheumatoid arthritis

40

Neoplasm-plus

3

3:1145301

1.962E-17

A

G

0.016

10

chr3:1131967..1145857

[CNTN6]

Gut microbiome (PMID: 27723756)

22

Uterine neoplasm-plus

2

2:209079758

7.645E-17

C

G

0.017

4

chr2:209077907..209084036

[]

None

01

Adrenal and electrolyte-plus

4

4:41059660

1.813E-16

A

C

0.012

3

chr4:40970912..41064140

[APBB2]

None

22

Uterine neoplasm-plus

4

4:84272944

1.993E-16

G

T

0.015

2

chr4:84272944..84273025

[]

None

25

Pituitary and adrenal disease-plus

18

18:25741737

3.269E-16

C

A

0.012

5

chr18:25724075..25753257

[CDH2]

Resting heart rate (PMID: 27798624)

24

Rheumatoid arthritis-plus

6

6:32303848

3.558E-16

A

G

0.204

263

chr6:32114515..32389305

[HLA region]

Rheumatoid arthritis

07

Viral-plus

8

8:58987251

4.165E-16

T

C

0.012

5

chr8:58987251..59037450

[FAM110B]

None

  1. ATotal number of SNPs within r2 = 0.2 and 250 kb with p < 0.01
  2. BAnnotated mRNA in locus
  3. cGenes annotated in GWAS catalog