Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs140263599
rs140263599
GNB3
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: rs5442
rs5442
GNB3 ; CDCA3
0.925 0.120 12 6845700 missense variant G/A snv 4.8E-02 4.6E-02
CUI: C0027092
Disease: Myopia
Myopia 		0.700 1.000 1 2016 2016
dbSNP: rs879253773
rs879253773
GNB3 ; CDCA3
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
GNB3
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
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.100 0.891 46 1998 2018
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.100 0.864 22 1999 2017
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0028754
Disease: Obesity
Obesity 		0.100 0.850 20 1999 2018
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.090 0.778 9 2004 2017
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.070 0.714 7 1999 2014
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.060 1.000 6 2002 2017
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.060 1.000 6 2004 2011
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.060 0.833 6 2007 2017
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.050 1.000 5 2004 2017
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.050 0.800 5 1999 2017
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.050 1.000 5 2004 2017
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.050 1.000 5 2002 2008
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.050 1.000 5 2010 2017
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.040 1.000 4 2002 2008
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		0.040 0.750 4 2003 2016
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.040 0.750 4 1998 2000
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.040 1.000 4 2002 2008
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.040 0.250 4 2008 2014
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.040 0.750 4 2000 2017
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.040 0.750 4 2000 2013
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0013395
Disease: Dyspepsia
Dyspepsia 		0.030 1.000 3 2004 2011