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: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 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: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 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: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0011991
Disease: Diarrhea
Diarrhea
Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2014 2014
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2010 2010
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2010 2010
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
Transitional cell 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: C0232493
Disease: Epigastric pain
Epigastric pain
Pathological Conditions, Signs and Symptoms 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: C0740394
Disease: Hyperuricemia
Hyperuricemia
Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2006 2006
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
Malignant neoplasm of urinary 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: C0349218
Disease: Recurrent depressive disorder
Recurrent depressive disorder
Mental Disorders 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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
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: 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: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
Congenital contractural arachnodactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 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: C0271680
Disease: Diabetic Polyneuropathies
Diabetic Polyneuropathies
Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
Nervous System Diseases 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: C0236788
Disease: Bipolar II disorder
Bipolar II disorder
Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008