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: 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: 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
dbSNP: rs1137101
rs1137101
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.080 0.750 8 2008 2017
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: 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: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.060 1.000 6 2009 2018
dbSNP: rs1256046734
rs1256046734
0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.060 1.000 6 2009 2018
dbSNP: rs1805096
rs1805096
0.827 0.200 1 65636574 synonymous variant G/A snv 0.46 0.43
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.800 1.000 5 2012 2019
dbSNP: rs1137100
rs1137100
0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2011 2017
dbSNP: rs1137100
rs1137100
0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.040 0.750 4 2005 2019
dbSNP: rs1137100
rs1137100
0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2011 2017
dbSNP: rs1137101
rs1137101
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.040 0.250 4 2012 2019
dbSNP: rs1137101
rs1137101
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.040 0.250 4 2012 2019
dbSNP: rs1137101
rs1137101
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.040 0.750 4 2012 2018
dbSNP: rs1137101
rs1137101
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.040 0.750 4 2005 2018
dbSNP: rs1137101
rs1137101
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.040 0.750 4 2013 2019
dbSNP: rs1137101
rs1137101
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
Digestive System Diseases 0.030 1.000 3 2013 2018
dbSNP: rs1892534
rs1892534
0.925 0.120 1 65640261 3 prime UTR variant C/T snv 0.44
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.800 1.000 3 2008 2019
dbSNP: rs6700896
rs6700896
0.827 0.160 1 65624099 intron variant C/T snv 0.44
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.800 1.000 3 2009 2019
dbSNP: rs10889569
rs10889569
1 65620511 intron variant A/T snv 0.46
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.800 1.000 2 2013 2019
dbSNP: rs1137100
rs1137100
0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.020 1.000 2 2012 2019
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: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
Nutritional and Metabolic Diseases 0.020 1.000 2 2001 2005
dbSNP: rs1137100
rs1137100
0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
Cardiovascular Diseases 0.020 1.000 2 2010 2015