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: 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: 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: 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: rs11208662
rs11208662 		1 65521481 intron variant G/C;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs12037879
rs12037879 		0.925 0.080 1 65477024 intron variant G/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs12037879
rs12037879 		0.925 0.080 1 65477024 intron variant G/A;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12037879
rs12037879 		0.925 0.080 1 65477024 intron variant G/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs12037879
rs12037879 		0.925 0.080 1 65477024 intron variant G/A;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2013 2013
dbSNP: rs12037879
rs12037879 		0.925 0.080 1 65477024 intron variant G/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs13306519
rs13306519 		1.000 0.080 1 65572246 intron variant C/G;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 2014 2014
dbSNP: rs13306519
rs13306519 		1.000 0.080 1 65572246 intron variant C/G;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1751492
rs1751492 		1.000 0.080 1 65526942 intron variant C/A;T snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1805092
rs1805092 		0.925 0.080 1 65570758 missense variant A/G 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: rs1805092
rs1805092 		0.925 0.080 1 65570758 missense variant A/G snv
CUI: C1561826
Disease: Overweight and obesity
Overweight and obesity 		0.010 1.000 1 2016 2016
dbSNP: rs1805094
rs1805094 		0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06
CUI: C0042384
Disease: Vasculitis
Vasculitis 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1805094
rs1805094 		0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1805094
rs1805094 		0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1805094
rs1805094 		0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1805094
rs1805094 		0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06
CUI: C2347126
Disease: Microscopic Polyarteritis
Microscopic Polyarteritis 		Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1805094
rs1805094 		0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1805094
rs1805094 		0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06
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 2008 2008
dbSNP: rs1805094
rs1805094 		0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06
CUI: C0008728
Disease: Eosinophilic granulomatosis with polyangiitis
Eosinophilic granulomatosis with polyangiitis 		Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1805094
rs1805094 		0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1805094
rs1805094 		0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015