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: 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: 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: 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 < 0.001 2 2004 2012
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 < 0.001 2 2004 2012
dbSNP: rs5442
rs5442 		0.925 0.120 12 6845700 missense variant G/A snv 4.8E-02 4.6E-02
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 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: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 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: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 < 0.001 1 2005 2005
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: C0342335
Disease: insulin resistance in diabetes
insulin resistance in diabetes 		Nutritional and Metabolic Diseases 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: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		Nervous System Diseases; Cardiovascular 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: 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: 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: 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
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: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.020 0.500 2 1998 2007
dbSNP: rs5443
rs5443 		0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.030 0.667 3 1998 2009
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: 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