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: 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: 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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2000 2000
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus 		Endocrine System Diseases 0.010 1.000 1 2001 2001
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: 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: 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: 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: 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: 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: 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: 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
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0085159
Disease: Seasonal Affective Disorder
Seasonal Affective Disorder 		Mental Disorders 0.010 < 0.001 1 2004 2004
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C4551858
Disease: Vesicoureteral Reflux 1
Vesicoureteral Reflux 1 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2004 2004
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C3161650
Disease: Primary immunoglobulin A nephropathy (disorder)
Primary immunoglobulin A nephropathy (disorder) 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs879253773
rs879253773 		0.882 0.080 12 6846892 stop gained G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs879253773
rs879253773 		0.882 0.080 12 6846892 stop gained G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
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: 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: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005