LEPR, leptin receptor, 3953

N. diseases: 416; N. variants: 57
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: rs1137100
rs1137100 		0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs1137100
rs1137100 		0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1137100
rs1137100 		0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1137100
rs1137100 		0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1137100
rs1137100 		0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2012 2012
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0011991
Disease: Diarrhea
Diarrhea 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0002438
Disease: Amebiasis
Amebiasis 		Infections 0.010 1.000 1 2014 2014
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0023886
Disease: Liver Abscess, Amebic
Liver Abscess, Amebic 		Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C1997092
Disease: Hypertensive left ventricular hypertrophy
Hypertensive left ventricular hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0020175
Disease: Hunger
Hunger 		Behavior and Behavior Mechanisms 0.010 1.000 1 2009 2009
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015