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: C0019099
Disease: Hemorrhagic Fever, Crimean
Hemorrhagic Fever, Crimean 		Infections 0.010 < 0.001 1 2019 2019
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2002 2002
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 < 0.001 1 2010 2010
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 < 0.001 1 2002 2002
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune 		Immune System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
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: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0856742
Disease: Post MI
Post MI 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
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: 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: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 0.500 2 2017 2019
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 0.500 2 2005 2014
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		Nervous System Diseases; Cardiovascular Diseases 0.020 0.500 2 2001 2018
dbSNP: rs854560
rs854560 		0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		Nervous System Diseases; Cardiovascular Diseases 0.020 0.500 2 2001 2004
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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.030 0.667 3 2004 2013
dbSNP: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.030 0.667 3 2011 2019
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: rs662
rs662 		0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.040 0.750 4 2005 2015
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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.050 0.800 5 2008 2012
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