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: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C1840169
Disease: CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO
CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C1827841
Disease: Enzyme activity finding
Enzyme activity finding 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C3149706
Disease: CORONARY ARTERY SPASM 2, SUSCEPTIBILITY TO
CORONARY ARTERY SPASM 2, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C1827841
Disease: Enzyme activity finding
Enzyme activity finding 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C1840169
Disease: CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO
CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C2674665
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5 (finding)
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5 (finding) 		0.700 0
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.010 < 0.001 1 2009 2009
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0019099
Disease: Hemorrhagic Fever, Crimean
Hemorrhagic Fever, Crimean 		Infections 0.010 < 0.001 1 2019 2019
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune 		Immune System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 < 0.001 1 2014 2014
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2018 2018
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2018 2018
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C3160761
Disease: Diabetic dyslipidaemia
Diabetic dyslipidaemia 		0.010 < 0.001 1 2017 2017
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2002 2002
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.010 < 0.001 1 2014 2014
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: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C1096293
Disease: Macroangiopathy
Macroangiopathy 		0.010 < 0.001 1 2018 2018
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		Eye Diseases 0.010 < 0.001 1 2002 2002