PTX3, pentraxin 3, 5806

N. diseases: 296; N. variants: 5
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: rs1840680
rs1840680 		0.807 0.200 3 157438240 intron variant A/G snv 0.59
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1840680
rs1840680 		0.807 0.200 3 157438240 intron variant A/G snv 0.59
CUI: C2350530
Disease: Bronchopulmonary Aspergillosis
Bronchopulmonary Aspergillosis 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1840680
rs1840680 		0.807 0.200 3 157438240 intron variant A/G snv 0.59
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1840680
rs1840680 		0.807 0.200 3 157438240 intron variant A/G snv 0.59
CUI: C2350529
Disease: Pulmonary Aspergillosis
Pulmonary Aspergillosis 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1840680
rs1840680 		0.807 0.200 3 157438240 intron variant A/G snv 0.59
CUI: C0004030
Disease: Aspergillosis
Aspergillosis 		Infections 0.010 1.000 1 2018 2018
dbSNP: rs1840680
rs1840680 		0.807 0.200 3 157438240 intron variant A/G snv 0.59
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2305619
rs2305619 		0.882 0.240 3 157437072 intron variant A/G snv 0.55 0.50
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2305619
rs2305619 		0.882 0.240 3 157437072 intron variant A/G snv 0.55 0.50
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2305619
rs2305619 		0.882 0.240 3 157437072 intron variant A/G snv 0.55 0.50
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs3816527
rs3816527 		0.882 0.160 3 157437525 missense variant C/A snv 0.64 0.64
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3816527
rs3816527 		0.882 0.160 3 157437525 missense variant C/A snv 0.64 0.64
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3816527
rs3816527 		0.882 0.160 3 157437525 missense variant C/A snv 0.64 0.64
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3816527
rs3816527 		0.882 0.160 3 157437525 missense variant C/A snv 0.64 0.64
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3816527
rs3816527 		0.882 0.160 3 157437525 missense variant C/A snv 0.64 0.64
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3816527
rs3816527 		0.882 0.160 3 157437525 missense variant C/A snv 0.64 0.64
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3816527
rs3816527 		0.882 0.160 3 157437525 missense variant C/A snv 0.64 0.64
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3816527
rs3816527 		0.882 0.160 3 157437525 missense variant C/A snv 0.64 0.64
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3816527
rs3816527 		0.882 0.160 3 157437525 missense variant C/A snv 0.64 0.64
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3845978
rs3845978 		1.000 0.040 3 157441905 intron variant C/T snv 9.4E-02
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs757818668
rs757818668 		0.925 0.120 3 157442729 missense variant G/A snv 1.2E-05
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs757818668
rs757818668 		0.925 0.120 3 157442729 missense variant G/A snv 1.2E-05
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2005 2005