PON1, paraoxonase 1, 5444

N. diseases: 496; N. variants: 29
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.100 1.000 12 2000 2019
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.100 0.909 11 2002 2017
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.080 1.000 8 2002 2017
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.070 1.000 7 2006 2019
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.070 1.000 7 2006 2019
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.060 0.833 6 2007 2019
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.060 0.833 6 1999 2018
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.060 1.000 6 2010 2019
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.060 1.000 6 2012 2019
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.060 1.000 6 2004 2017
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.050 1.000 5 2001 2019
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.050 1.000 5 2012 2019
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.050 1.000 5 2001 2019
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.050 0.800 5 2008 2012
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.040 0.750 4 2014 2019
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.040 0.750 4 2011 2019
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.030 1.000 3 2007 2013
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.030 0.667 3 2004 2013
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.030 0.667 3 2010 2019
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.030 1.000 3 2004 2016
dbSNP: rs765657236
rs765657236 		1.000 0.120 7 95318360 synonymous variant G/A snv 8.0E-06
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2016 2018
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2009 2015
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.020 1.000 2 2008 2017
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		Nutritional and Metabolic Diseases 0.020 1.000 2 2010 2019
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2015 2019