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. Author manuscript; available in PMC: 2013 Nov 1.
Published in final edited form as: Genet Med. 2012 Nov 29;15(5):325–331. doi: 10.1038/gim.2012.147

Table 3.

Selected strong (OR ≥ 2.0 or ≤ 0.5) genotype-phenotype associations relevant to a female patient of European ancestry

Gene Selected* Phenotypes with Strong (OR ≥ 2.0 or ≤ 0.5) Association
ABCB1 Breast Cancer, Colorectal Cancer, Inflammatory Bowel Disease
ABCG2 Gout
CYP1A1 Breast Cancer, Colorectal Cancer, Coronary Artery Disease, Endometrial Cancer, Head and Neck Cancer, Leukemia, Lung Cancer, Ovarian Cancer, Psoriasis, Type 2 Diabetes
CYP1A2 Colorectal Cancer, Endometrial Cancer, Hypertension, Ovarian Cancer
CYP2C9 Mood Disorder
CYP2D6 Colorectal Cancer, Lung Cancer, Parkinson's Disease, Scleroderma
CYP2E1 Colorectal Cancer, Gastric Cancer, Head and Neck Cancer, Lung Cancer, Scleroderma
CYP3A4 Lung Cancer
CYP3A5 Hypertension
GSTM1 Alcoholic Pancreatitis, Asthma, Basal Cell or Squamous Cell Carcinoma, Breast Cancer, Esophageal Cancer, Head and Neck Cancer, Hypertension, Lung Cancer, Ovarian Cancer, Renal Cancer, Rheumatoid Arthritis, Urinary Tract Cancer
GSTP1 Breast Cancer, Colorectal Cancer, Gastric Cancer, Hodgkin's Lymphoma, Lung Cancer, Parkinson's Disease, Urinary Tract Cancer
GSTT1 Asthma, Breast Cancer, Colorectal Cancer, Coronary Artery Disease, Esophageal Cancer, Gastric Cancer, Head and Neck Cancer, Leukemia, Lung Cancer, Melanoma, Non-Hodgkin's Lymphoma, Renal Cancer, Urinary Tract Cancer
NAT1 Asthma, Lung Cancer
NAT2 Breast Cancer, Cervical Cancer, Endometriosis, Gastric Cancer, Head and Neck Cancer, Lung Cancer, Ovarian Cancer, Urinary Tract Cancer
SULT1A1 Breast Cancer, Colorectal Cancer, Endometrial Cancer, Gastric Cancer, Head and Neck Cancer, Urinary Tract Cancer
UGT1A1 Endometrial Cancer
*

Relatively minor or rare phenotypes omitted