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: 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: rs1157745
rs1157745 		7 95311726 intron variant G/T snv 0.42
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1302207706
rs1302207706 		1.000 0.080 7 95316748 missense variant C/T snv
CUI: C0403447
Disease: Chronic Kidney Insufficiency
Chronic Kidney Insufficiency 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1302207706
rs1302207706 		1.000 0.080 7 95316748 missense variant C/T snv
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2057681
rs2057681 		7 95308945 intron variant A/G snv 0.43
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2057681
rs2057681 		7 95308945 intron variant A/G snv 0.43
CUI: C2257843
Disease: paraoxonase activity
paraoxonase activity 		0.700 1.000 1 2012 2012
dbSNP: rs2074351
rs2074351 		1.000 0.080 7 95318487 non coding transcript exon variant G/A snv 0.26
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2237583
rs2237583 		7 95320865 intron variant C/G;T snv
CUI: C2257843
Disease: paraoxonase activity
paraoxonase activity 		0.700 1.000 1 2013 2013
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: rs3917481
rs3917481 		1.000 0.040 7 95321453 intron variant C/T snv 3.7E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3917502
rs3917502 		7 95316432 intron variant C/T snv 3.9E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3917510
rs3917510 		7 95313808 intron variant T/G snv 6.2E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3917532
rs3917532 		7 95310807 intron variant A/T snv 0.42
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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: 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: 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: rs705379
rs705379 		1.000 0.080 7 95324583 upstream gene variant G/A;C;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs705379
rs705379 		1.000 0.080 7 95324583 upstream gene variant G/A;C;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs705381
rs705381 		1.000 0.080 7 95324637 upstream gene variant T/C snv 0.72
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs705381
rs705381 		1.000 0.080 7 95324637 upstream gene variant T/C snv 0.72
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs705382
rs705382 		0.827 0.200 7 95325909 upstream gene variant C/G snv 0.53
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs705382
rs705382 		0.827 0.200 7 95325909 upstream gene variant C/G snv 0.53
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		Digestive System Diseases; Infections 0.010 1.000 1 2015 2015
dbSNP: rs705382
rs705382 		0.827 0.200 7 95325909 upstream gene variant C/G snv 0.53
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2015 2015