Table 1 Results of PheWAS and effect estimates of the comparison between the top risk quartile and the bottom risk quartile.

From: Phenome-wide association study (PheWAS) of colorectal cancer risk SNP effects on health outcomes in UK Biobank

Description

Correspond ICD10 codes

Group

Number of participants

Number of cases

Beta

SE

FDR q

OR (95% CI)a

Pa

Benign neoplasm of colon

D12, K63.5

Neoplasms

334,134

18,796

0.46

0.01

3.94 × 10−251

1.93 (1.85, 2.01)

3.59 × 10−201

Benign neoplasm of unspecified sites

D10–D36

Neoplasms

334,385

40,252

0.18

0.01

2.09 × 10−76

1.29 (1.25, 1.33)

1.05 × 10−63

Anal and rectal polyp

K62.0, K62.1

Digestive

268,006

6807

0.37

0.02

2.43 × 10−61

1.66 (1.54, 1.78)

9.06 × 10−47

Malignant neoplasm, otherb

B21.7, C00–C97, D00–D48, M90.7

Neoplasms

328,419

91,309

0.09

0.01

2.60 × 10−34

1.13 (1.11, 1.16)

1.67 × 10−29

Other disorders of intestine

K00–K14, K55–K63, K92.8, K92.9

Digestive

332,441

71,242

0.09

0.01

6.12 × 10−21

1.13 (1.10, 1.16)

5.36 × 10−25

Diverticular disease

K57

Digestive

298,598

27,266

0.12

0.01

4.02 × 10−22

1.18 (1.14, 1.22)

2.48 × 10−20

Neoplasm of unspecified nature of digestive system

D37

Neoplasms

323,276

953

0.39

0.06

2.19 × 10−9

1.91 (1.59, 2.30)

3.25 × 10−12

Malignant neoplasm of other and ill-defined sites within the digestive organs and peritoneum

C26.1, C26.8, C26.9, D01, D01.7, D01.9

Neoplasms

324,092

1769

0.23

0.04

1.71 × 10−5

1.31 (1.15, 1.49)

4.50 × 10−5

  1. SE standard error, FDR false discovery rate, OR odds ratio, CI confidence interval.
  2. aThe comparison of case frequency between the top risk quartile and the bottom risk quartile.
  3. bColorectal cancer cases were removed from this PheCODE.