NPPB, natriuretic peptide B, 4879

N. diseases: 193; N. variants: 4
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: rs3753581
rs3753581 		1 11860132 upstream gene variant C/A;T snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 2 2018 2018
dbSNP: rs198389
rs198389 		0.776 0.240 1 11859214 upstream gene variant A/G snv 0.39
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3753581
rs3753581 		1 11860132 upstream gene variant C/A;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs3753581
rs3753581 		1 11860132 upstream gene variant C/A;T snv
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs198389
rs198389 		0.776 0.240 1 11859214 upstream gene variant A/G snv 0.39
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.040 0.750 4 2009 2015
dbSNP: rs198388
rs198388 		0.851 0.160 1 11857283 downstream gene variant C/G;T snv
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs198388
rs198388 		0.851 0.160 1 11857283 downstream gene variant C/G;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs198388
rs198388 		0.851 0.160 1 11857283 downstream gene variant C/G;T snv
CUI: C0263420
Disease: Hyperkeratosis lenticularis perstans
Hyperkeratosis lenticularis perstans 		Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs198388
rs198388 		0.851 0.160 1 11857283 downstream gene variant C/G;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs198389
rs198389 		0.776 0.240 1 11859214 upstream gene variant A/G snv 0.39
CUI: C0035067
Disease: Renal Artery Stenosis
Renal Artery Stenosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs198389
rs198389 		0.776 0.240 1 11859214 upstream gene variant A/G snv 0.39
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs198389
rs198389 		0.776 0.240 1 11859214 upstream gene variant A/G snv 0.39
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs198389
rs198389 		0.776 0.240 1 11859214 upstream gene variant A/G snv 0.39
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs198389
rs198389 		0.776 0.240 1 11859214 upstream gene variant A/G snv 0.39
CUI: C0020545
Disease: Hypertension, Renovascular
Hypertension, Renovascular 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs198389
rs198389 		0.776 0.240 1 11859214 upstream gene variant A/G snv 0.39
CUI: C0263420
Disease: Hyperkeratosis lenticularis perstans
Hyperkeratosis lenticularis perstans 		Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs198389
rs198389 		0.776 0.240 1 11859214 upstream gene variant A/G snv 0.39
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs198389
rs198389 		0.776 0.240 1 11859214 upstream gene variant A/G snv 0.39
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs550521638
rs550521638 		0.925 0.160 1 11858427 missense variant C/T snv 5.0E-06
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs550521638
rs550521638 		0.925 0.160 1 11858427 missense variant C/T snv 5.0E-06
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017