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: rs3735590
rs3735590
0.925 0.080 7 95298183 3 prime UTR variant G/A snv 0.14
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.020 1.000 2 2015 2018
dbSNP: rs3735590
rs3735590
0.925 0.080 7 95298183 3 prime UTR variant G/A snv 0.14
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3735590
rs3735590
0.925 0.080 7 95298183 3 prime UTR variant G/A snv 0.14
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11292716
rs11292716
7 95305887 intron variant A/- delins
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: rs771025483
rs771025483
1.000 0.040 7 95306310 missense variant G/C snv 4.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.010 1.000 1 2010 2010
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: rs755603793
rs755603793
0.925 0.080 7 95308077 missense variant C/T snv 1.6E-05
CUI: C0206064
Disease: Microvascular Angina
Microvascular Angina
Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs755603793
rs755603793
0.925 0.080 7 95308077 missense variant C/T snv 1.6E-05
CUI: C0002963
Disease: Angina Pectoris, Variant
Angina Pectoris, Variant
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs662
rs662
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.100 0.889 27 1998 2019
dbSNP: rs662
rs662
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.100 0.864 22 1996 2018
dbSNP: rs662
rs662
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.100 0.938 16 1998 2018
dbSNP: rs662
rs662
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
Nervous System Diseases; Cardiovascular Diseases 0.100 0.929 14 2000 2019
dbSNP: rs662
rs662
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.100 1.000 12 1996 2019
dbSNP: rs662
rs662
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.090 0.667 9 2003 2014
dbSNP: rs662
rs662
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.070 0.857 7 2000 2010
dbSNP: rs662
rs662
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
Cardiovascular Diseases 0.070 1.000 7 2000 2020
dbSNP: rs662
rs662
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
Nervous System Diseases; Cardiovascular Diseases 0.060 0.833 6 2005 2016
dbSNP: rs662
rs662
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
Cardiovascular Diseases 0.060 1.000 6 2001 2019
dbSNP: rs662
rs662
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
Cardiovascular Diseases 0.060 1.000 6 2001 2019
dbSNP: rs662
rs662
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.060 0.500 6 2010 2019
dbSNP: rs662
rs662
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.060 0.833 6 2006 2019
dbSNP: rs662
rs662
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.060 0.833 6 2006 2019
dbSNP: rs662
rs662
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.050 1.000 5 2012 2019
dbSNP: rs662
rs662
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.040 1.000 4 2012 2019