GNB3, G protein subunit beta 3, 2784

N. diseases: 192; N. variants: 10
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: rs1129649
rs1129649 		1.000 0.080 12 6839304 missense variant T/C snv 0.36 0.36
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1184436054
rs1184436054 		1.000 0.040 12 6843683 missense variant C/T snv 7.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs16932941
rs16932941 		1.000 0.040 12 6845700 missense variant G/A snv
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2301339
rs2301339 		1.000 0.080 12 6845460 3 prime UTR variant G/A;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2301339
rs2301339 		1.000 0.080 12 6845460 3 prime UTR variant G/A;T snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2301339
rs2301339 		1.000 0.080 12 6845460 3 prime UTR variant G/A;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs5440
rs5440 		12 6839735 3 prime UTR variant A/G snv 0.56
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2014 2014
dbSNP: rs5442
rs5442 		0.925 0.120 12 6845700 missense variant G/A snv 4.8E-02 4.6E-02
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0006145
Disease: Breast Diseases
Breast Diseases 		Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 < 0.001 1 2005 2005
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.010 1.000 1 2010 2010
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0085159
Disease: Seasonal Affective Disorder
Seasonal Affective Disorder 		Mental Disorders 0.010 < 0.001 1 2004 2004
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C3805278
Disease: Extrahepatic Cholangiocarcinoma
Extrahepatic Cholangiocarcinoma 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0342335
Disease: insulin resistance in diabetes
insulin resistance in diabetes 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2007 2007