GHRL, ghrelin and obestatin prepropeptide, 51738

N. diseases: 183; N. variants: 11
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: rs34911341
rs34911341 		0.882 0.200 3 10289835 missense variant C/T snv 7.0E-03 7.3E-03
CUI: C2676079
Disease: METABOLIC SYNDROME, SUSCEPTIBILITY TO
METABOLIC SYNDROME, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C4016925
Disease: OBESITY, AGE AT ONSET OF
OBESITY, AGE AT ONSET OF 		0.700 0
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C2676079
Disease: METABOLIC SYNDROME, SUSCEPTIBILITY TO
METABOLIC SYNDROME, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs34911341
rs34911341 		0.882 0.200 3 10289835 missense variant C/T snv 7.0E-03 7.3E-03
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.710 1.000 1 2002 2002
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.060 0.500 6 2003 2014
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 < 0.001 1 2003 2003
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus 		Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.050 1.000 5 2005 2019
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.020 1.000 2 2005 2008
dbSNP: rs34911341
rs34911341 		0.882 0.200 3 10289835 missense variant C/T snv 7.0E-03 7.3E-03
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs4684677
rs4684677 		0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2006 2012
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 < 0.001 2 2006 2008
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 2006 2012
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.020 1.000 2 2006 2014
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C2267227
Disease: Bulimia Nervosa
Bulimia Nervosa 		Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs4684677
rs4684677 		0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs752298108
rs752298108 		1.000 0.040 3 10286806 missense variant C/T snv 4.0E-05 7.0E-06
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008