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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		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: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.020 1.000 2 2013 2018
dbSNP: rs1137100
rs1137100 		0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2010 2015
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.020 0.500 2 2009 2019
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.020 1.000 2 2011 2019
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 1.000 2 2014 2017
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2018 2019
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C1561826
Disease: Overweight and obesity
Overweight and obesity 		0.020 1.000 2 2016 2018
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2018 2018
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.020 1.000 2 2012 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: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.020 1.000 2 2010 2015
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: 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: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2014 2018
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2015 2018
dbSNP: rs1137101
rs1137101 		0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.020 0.500 2 2009 2019
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: 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: rs6700896
rs6700896 		0.827 0.160 1 65624099 intron variant C/T snv 0.44
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 0.500 2 2009 2015
dbSNP: rs1045895
rs1045895 		0.925 0.080 1 65432298 3 prime UTR variant G/A;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1045895
rs1045895 		0.925 0.080 1 65432298 3 prime UTR variant G/A;T snv
CUI: C1561826
Disease: Overweight and obesity
Overweight and obesity 		0.010 1.000 1 2016 2016
dbSNP: rs11208659
rs11208659 		1.000 0.080 1 65513597 intron variant T/A;C snv 0.17
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs11208659
rs11208659 		1.000 0.080 1 65513597 intron variant T/A;C snv 0.17
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs11208662
rs11208662 		1 65521481 intron variant G/C;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019