BDKRB2, bradykinin receptor B2, 624

N. diseases: 105; N. variants: 7
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: rs2069590
rs2069590 		0.925 0.120 14 96242445 3 prime UTR variant A/T snv 0.27
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2069590
rs2069590 		0.925 0.120 14 96242445 3 prime UTR variant A/T snv 0.27
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs117806152
rs117806152 		14 96214520 intron variant A/C snv 1.2E-03
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		Digestive System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1799722
rs1799722 		0.882 0.240 14 96204802 5 prime UTR variant C/T snv 0.41 0.39
CUI: C0038443
Disease: Stress, Psychological
Stress, Psychological 		Behavior and Behavior Mechanisms 0.010 1.000 1 2018 2018
dbSNP: rs1799722
rs1799722 		0.882 0.240 14 96204802 5 prime UTR variant C/T snv 0.41 0.39
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1799722
rs1799722 		0.882 0.240 14 96204802 5 prime UTR variant C/T snv 0.41 0.39
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1799722
rs1799722 		0.882 0.240 14 96204802 5 prime UTR variant C/T snv 0.41 0.39
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs4900318
rs4900318 		14 96222623 intron variant A/C snv 0.54
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs8012552
rs8012552 		14 96222430 intron variant C/T snv 0.54
CUI: C0010200
Disease: Coughing
Coughing 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs8016905
rs8016905 		14 96209596 intron variant A/C;G;T snv
CUI: C0010200
Disease: Coughing
Coughing 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs945032
rs945032 		0.882 0.040 14 96204324 upstream gene variant T/C snv 0.78
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs945032
rs945032 		0.882 0.040 14 96204324 upstream gene variant T/C snv 0.78
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs945032
rs945032 		0.882 0.040 14 96204324 upstream gene variant T/C snv 0.78
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs945032
rs945032 		0.882 0.040 14 96204324 upstream gene variant T/C snv 0.78
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs945032
rs945032 		0.882 0.040 14 96204324 upstream gene variant T/C snv 0.78
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2009 2009