NPPA, natriuretic peptide A, 4878

N. diseases: 217; N. variants: 11
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: rs202102042
rs202102042 		1.000 1 11847114 missense variant C/T snv 2.2E-04 1.6E-04
CUI: C3810401
Disease: ATRIAL STANDSTILL 2
ATRIAL STANDSTILL 2 		0.800 0
dbSNP: rs12744757
rs12744757 		1 11846764 intron variant C/T snv 4.1E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs202102042
rs202102042 		1.000 1 11847114 missense variant C/T snv 2.2E-04 1.6E-04
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs5063
rs5063 		0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs5068
rs5068 		0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs5068
rs5068 		0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs587776851
rs587776851 		1.000 0.080 1 11846008 stop lost TT/- del
CUI: C2677294
Disease: Atrial Fibrillation, Familial, 6
Atrial Fibrillation, Familial, 6 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs61757261
rs61757261 		0.925 0.080 1 11847373 missense variant T/G snv 2.0E-03 1.6E-03
CUI: C2677294
Disease: Atrial Fibrillation, Familial, 6
Atrial Fibrillation, Familial, 6 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs5063
rs5063 		0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.060 1.000 6 2007 2019
dbSNP: rs5063
rs5063 		0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.030 1.000 3 2010 2015
dbSNP: rs5065
rs5065 		0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.030 1.000 3 2007 2011
dbSNP: rs5065
rs5065 		0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.030 1.000 3 2012 2014
dbSNP: rs5068
rs5068 		0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.030 1.000 3 2009 2017
dbSNP: rs5065
rs5065 		0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2012 2014
dbSNP: rs5065
rs5065 		0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2012 2014
dbSNP: rs13305986
rs13305986 		1.000 0.080 1 11848448 upstream gene variant G/C snv 1.5E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5063
rs5063 		0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5063
rs5063 		0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs5063
rs5063 		0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs5063
rs5063 		0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs5063
rs5063 		0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs5063
rs5063 		0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs5063
rs5063 		0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs5063
rs5063 		0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs5063
rs5063 		0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2005 2005