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: rs9436735
rs9436735 		1 65419378 upstream gene variant C/G snv 2.5E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9436735
rs9436735 		1 65419378 upstream gene variant C/G snv 2.5E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9436735
rs9436735 		1 65419378 upstream gene variant C/G snv 2.5E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9436742
rs9436742 		1 65432648 3 prime UTR variant C/T snv 2.3E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9436742
rs9436742 		1 65432648 3 prime UTR variant C/T snv 2.3E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9436746
rs9436746 		1.000 1 65442790 intron variant A/C snv 0.50
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma 		0.010 < 0.001 1 2011 2011
dbSNP: rs9436747
rs9436747 		1 65445924 intron variant T/C snv 0.56
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs9436747
rs9436747 		1 65445924 intron variant T/C snv 0.56
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs9436747
rs9436747 		1 65445924 intron variant T/C snv 0.56
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs9436747
rs9436747 		1 65445924 intron variant T/C snv 0.56
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs9436747
rs9436747 		1 65445924 intron variant T/C snv 0.56
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs9436748
rs9436748 		1.000 1 65445989 intron variant G/A;T snv 0.33
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma 		0.010 < 0.001 1 2011 2011
dbSNP: rs1553174844
rs1553174844 		1.000 1 65636776 frameshift variant -/AG delins
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY 		0.700 0
dbSNP: rs1557670950
rs1557670950 		1.000 1 65572419 missense variant A/C snv
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY 		0.700 0
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: 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: 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