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: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.030 1.000 3 2001 2002
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.030 0.667 3 1998 2009
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.030 1.000 3 2013 2017
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.030 1.000 3 2002 2005
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.020 1.000 2 2005 2007
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2000 2002
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.020 1.000 2 2005 2018
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.020 0.500 2 1998 2007
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C3647902
Disease: Vasculogenic erectile dysfunction
Vasculogenic erectile dysfunction 		Male Urogenital Diseases; Mental Disorders 0.020 1.000 2 2013 2018
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 < 0.001 2 2002 2002
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 < 0.001 2 2004 2005
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 < 0.001 2 2002 2002
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 < 0.001 2 2004 2012
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.020 1.000 2 2010 2014
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 < 0.001 2 2004 2012
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.020 1.000 2 2010 2014
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2004 2017
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 2008 2013
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