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Table 5 Carrier frequencies and Fisher’s exact test results of variants on the drug metabolism-related genes

From: Deleterious genetic variants in ciliopathy genes increase risk of ritodrine-induced cardiac and pulmonary side effects

Gene Symbol

rsID

Variant deleteriousness score

Case, n = 13

Control, n = 30

EAS, n = 504

T1GP, n = 2504

SIFT

CADD

PolyPhen2

Freq

P

Freq

P

Freq

P

CYP1A1

rs1048943

0.01

21.9

0.49

9 (69%)

10 (33%)

0.0457

221 (44%)

0.0902

568 (23%)

0.0005

rs143070677

0.03

24.4

0.51

1 (8%)

1 (3%)

0.5183

1 (0.2%)

0.0497

1 (0.04%)

0.0103

rs4646422

0.08

24.0

0.19

4 (31%)

12 (40%)

0.7349

111 (22%)

0.4986

116 (5%)

0.0025

CYP8B1

rs202192572

0.04

23.9

0.05

1 (8%)

0 (0%)

0.3023

5 (1%)

0.1423

5 (0.2%)

0.0306

SERPINA7

rs1804495

0.01

23.8

0.46

9 (69%)

3 (10%)

0.0002

179 (36%)

0.0180

623 (25%)

0.0010

  1. Freq carrier frequency, SIFT Sorting Intolerant from Tolerant, CADD Combined Annotation Dependent Depletion, PolyPhen2 Polymorphism Phenotyping v2.2.2, EAS East Asian in the 1000 Genomes Project, T1GP The 1000 Genomes Project, CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1, CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1, SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7