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: rs140263599
rs140263599
1.000 12 6843073 missense variant C/T snv 2.8E-05
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H
0.800 1.000 1 2016 2016
dbSNP: rs5442
rs5442
0.925 0.120 12 6845700 missense variant G/A snv 4.8E-02 4.6E-02
CUI: C0027092
Disease: Myopia
Myopia
Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs879253773
rs879253773
0.882 0.080 12 6846892 stop gained G/A snv
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H
0.700 0
dbSNP: rs879253774
rs879253774
1.000 12 6843042 inframe deletion AGA/- delins
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H
0.700 0
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.100 0.891 46 1998 2018
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
Cardiovascular Diseases 0.100 0.864 22 1999 2017
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.100 0.850 20 1999 2018
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.090 0.778 9 2004 2017
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.070 0.714 7 1999 2014
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
Mental Disorders 0.060 1.000 6 2002 2017
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.060 1.000 6 2004 2011
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
Mental Disorders 0.060 0.833 6 2007 2017
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0344315
Disease: Depressed mood
Depressed mood
Behavior and Behavior Mechanisms 0.050 1.000 5 2004 2017
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.050 0.800 5 1999 2017
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0011570
Disease: Mental Depression
Mental Depression
Behavior and Behavior Mechanisms 0.050 1.000 5 2004 2017
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.050 1.000 5 2002 2008
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
Cardiovascular Diseases 0.050 1.000 5 2010 2017
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
Cardiovascular Diseases 0.040 1.000 4 2002 2008
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction
Male Urogenital Diseases; Mental Disorders 0.040 0.750 4 2003 2016
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.040 0.750 4 1998 2000
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
Cardiovascular Diseases 0.040 1.000 4 2002 2008
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome
Digestive System Diseases 0.040 0.250 4 2008 2014
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.040 0.750 4 2000 2017
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.040 0.750 4 2000 2013
dbSNP: rs5443
rs5443
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0013395
Disease: Dyspepsia
Dyspepsia
Pathological Conditions, Signs and Symptoms 0.030 1.000 3 2004 2011