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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