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: rs6690625
rs6690625
1 65611907 intron variant T/G snv 0.28
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.700 1.000 1 2013 2013
dbSNP: rs6700896
rs6700896
0.827 0.160 1 65624099 intron variant C/T snv 0.44
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2016 2016
dbSNP: rs6700896
rs6700896
0.827 0.160 1 65624099 intron variant C/T snv 0.44
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.700 1.000 1 2016 2016
dbSNP: rs67129560
rs67129560
1 65440446 intron variant A/G snv 0.54
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.700 1.000 1 2018 2018
dbSNP: rs72683129
rs72683129
1 65604098 intron variant A/G snv 9.4E-02
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.700 1.000 1 2018 2018
dbSNP: rs7516341
rs7516341
1 65622460 intron variant T/C snv 0.46
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.700 1.000 1 2013 2013
dbSNP: rs9436735
rs9436735
1 65419378 upstream gene variant C/G snv 2.5E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs9436735
rs9436735
1 65419378 upstream gene variant C/G snv 2.5E-02
High density lipoprotein measurement
0.700 1.000 1 2012 2012
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
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
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: 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: 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: rs193922650
rs193922650
1.000 0.080 1 65636397 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
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