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: rs1553174844
rs1553174844 		1.000 1 65636776 frameshift variant -/AG delins
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY 		0.700 0
dbSNP: rs1557670950
rs1557670950 		1.000 1 65572419 missense variant A/C snv
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY 		0.700 0
dbSNP: rs193922650
rs193922650 		1.000 0.080 1 65636397 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1303050393
rs1303050393 		1.000 1 65618108 missense variant T/C snv 4.0E-06
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY 		0.700 1.000 2 1998 2015
dbSNP: rs373154589
rs373154589 		1.000 0.080 1 65616036 missense variant G/C snv 8.0E-06 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 < 0.001 1 1998 1998
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.100 0.903 31 2001 2018
dbSNP: rs1137100
rs1137100 		0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.100 1.000 10 2001 2018
dbSNP: rs1805094
rs1805094 		0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.080 1.000 8 2001 2019
dbSNP: rs1137100
rs1137100 		0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.020 1.000 2 2001 2005
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.020 1.000 2 2001 2005
dbSNP: rs1805094
rs1805094 		0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1137100
rs1137100 		0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 0.500 2 2003 2014
dbSNP: rs1137100
rs1137100 		0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 0.500 2 2003 2014
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2003 2016
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2003 2016
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 0.500 2 2004 2011
dbSNP: rs369475236
rs369475236 		1 65570514 missense variant A/G snv 4.0E-06; 2.8E-05 4.9E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1137100
rs1137100 		0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.040 0.750 4 2005 2019
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.040 0.750 4 2005 2018
dbSNP: rs757574299
rs757574299 		1.000 0.080 1 65570511 missense variant C/G snv 1.6E-05 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
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: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic 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: C0085669
Disease: Acute leukemia
Acute leukemia 		Pathological Conditions, Signs and Symptoms; Neoplasms 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: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.060 1.000 6 2007 2019
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.080 0.750 8 2008 2017