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: rs3917539
rs3917539 		7 95308384 intron variant -/AA delins 0.42
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11292716
rs11292716 		7 95305887 intron variant A/- delins
CUI: C0201899
Disease: Aspartate aminotransferase measurement
Aspartate aminotransferase measurement 		0.700 1.000 1 2017 2017
dbSNP: rs3917549
rs3917549 		7 95305887 intron variant A/- delins 0.30
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3917545
rs3917545 		7 95306923 intron variant A/C snv 0.13
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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: 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