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
CUI: C4310758
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H 		0.800 1.000 1 2016 2016
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: C0746556
Disease: metabolic disturbance
metabolic disturbance 		0.010 1.000 1 2017 2017
dbSNP: rs879253773
rs879253773 		0.882 0.080 12 6846892 stop gained G/A snv
CUI: C4310758
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H 		0.700 0
dbSNP: rs879253774
rs879253774 		1.000 12 6843042 inframe deletion AGA/- delins
CUI: C4310758
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H
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: 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
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.050 1.000 5 2004 2017
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: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2014 2014
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0020175
Disease: Hunger
Hunger 		Behavior and Behavior Mechanisms 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: 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: 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: 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: 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: 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: 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: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.020 1.000 2 2010 2014
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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular 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: 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: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular 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: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular 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
CUI: C1696708
Disease: Prehypertension
Prehypertension 		Cardiovascular Diseases 0.010 1.000 1 2014 2014