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: 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: 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: 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
dbSNP: rs11804091
rs11804091 		1.000 0.080 1 65438196 intron variant A/G snv 0.15
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
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: rs17127608
rs17127608 		1 65428258 intron variant C/T snv 4.2E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17127608
rs17127608 		1 65428258 intron variant C/T snv 4.2E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
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: rs201721079
rs201721079 		1 65615104 intron variant -/C delins
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2025804
rs2025804 		1.000 0.080 1 65480438 intron variant G/A snv 0.69
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2767485
rs2767485 		1.000 0.160 1 65513234 intron variant T/C snv 0.21
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs35308591
rs35308591 		1 65615104 intron variant -/C delins
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2013 2013
dbSNP: rs3762274
rs3762274 		0.925 0.080 1 65598430 intron variant T/C snv 0.46
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs3762274
rs3762274 		0.925 0.080 1 65598430 intron variant T/C snv 0.46
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs3790433
rs3790433 		1.000 0.040 1 65428659 intron variant C/G;T snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3790438
rs3790438 		1 65619842 intron variant T/A;G snv 0.18
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018