LEP, leptin, 3952

N. diseases: 931; N. variants: 15
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: rs104894023
rs104894023 		1.000 7 128254572 missense variant C/T snv
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.800 1.000 2 1998 2015
dbSNP: rs1554394014
rs1554394014 		1.000 7 128254720 missense variant T/C snv
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.700 0
dbSNP: rs724159998
rs724159998 		0.882 0.080 7 128254557 missense variant G/A;T snv 4.0E-06
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		0.700 0
dbSNP: rs724159998
rs724159998 		0.882 0.080 7 128254557 missense variant G/A;T snv 4.0E-06
CUI: C4016279
Disease: LEPTIN DYSFUNCTION
LEPTIN DYSFUNCTION 		0.700 0
dbSNP: rs28954113
rs28954113 		1.000 0.080 7 128254568 missense variant C/A;T snv 2.0E-05; 1.8E-03
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.030 1.000 3 2010 2016
dbSNP: rs2167270
rs2167270 		0.724 0.280 7 128241296 5 prime UTR variant G/A snv 0.37
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2014 2018
dbSNP: rs2167270
rs2167270 		0.724 0.280 7 128241296 5 prime UTR variant G/A snv 0.37
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2014 2019
dbSNP: rs2167270
rs2167270 		0.724 0.280 7 128241296 5 prime UTR variant G/A snv 0.37
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2014 2019
dbSNP: rs13228377
rs13228377 		1.000 0.080 7 128239891 upstream gene variant A/C;G snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1800564
rs1800564 		1.000 0.080 7 128254587 missense variant G/A;T snv 1.5E-04; 4.0E-06
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs199647957
rs199647957 		1.000 0.080 7 128254433 synonymous variant C/G;T snv 8.0E-06; 2.8E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs200343690
rs200343690 		1.000 0.080 7 128254653 missense variant G/C snv 4.0E-06 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs200487063
rs200487063 		0.851 0.200 7 128241246 upstream gene variant G/A snv 2.1E-05
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 2015 2015
dbSNP: rs200487063
rs200487063 		0.851 0.200 7 128241246 upstream gene variant G/A snv 2.1E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs200487063
rs200487063 		0.851 0.200 7 128241246 upstream gene variant G/A snv 2.1E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs200487063
rs200487063 		0.851 0.200 7 128241246 upstream gene variant G/A snv 2.1E-05
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs200487063
rs200487063 		0.851 0.200 7 128241246 upstream gene variant G/A snv 2.1E-05
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2071045
rs2071045 		0.925 0.120 7 128252927 intron variant T/C snv 0.18
CUI: C0031046
Disease: Pericarditis
Pericarditis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2071045
rs2071045 		0.925 0.120 7 128252927 intron variant T/C snv 0.18
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2071045
rs2071045 		0.925 0.120 7 128252927 intron variant T/C snv 0.18
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2167270
rs2167270 		0.724 0.280 7 128241296 5 prime UTR variant G/A snv 0.37
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2167270
rs2167270 		0.724 0.280 7 128241296 5 prime UTR variant G/A snv 0.37
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2167270
rs2167270 		0.724 0.280 7 128241296 5 prime UTR variant G/A snv 0.37
CUI: C0220612
Disease: Childhood Non-Hodgkin Lymphoma
Childhood Non-Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2167270
rs2167270 		0.724 0.280 7 128241296 5 prime UTR variant G/A snv 0.37
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs2167270
rs2167270 		0.724 0.280 7 128241296 5 prime UTR variant G/A snv 0.37
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2014 2014