LEP, leptin, 3952

N. diseases: 931; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894023
rs104894023
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease:
LEPTIN DEFICIENCY OR DYSFUNCTION
T 0.800 CausalMutation CLINVAR
dbSNP: rs1554394014
rs1554394014
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease:
LEPTIN DEFICIENCY OR DYSFUNCTION
C 0.700 GeneticVariation CLINVAR
dbSNP: rs724159998
rs724159998
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C4016279
Disease:
LEPTIN DYSFUNCTION
T 0.700 CausalMutation CLINVAR
dbSNP: rs724159998
rs724159998
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease:
LEPTIN DEFICIENCY OR DYSFUNCTION
0.700 GeneticVariation UNIPROT
dbSNP: rs104894023
rs104894023
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease:
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 GeneticVariation UNIPROT A leptin missense mutation associated with hypogonadism and morbid obesity. 9500540 1998
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE We observed a slight reduction in colon cancer risk with the AA LEP rs2167270 genotype (OR 0.79 95% CI 0.64, 0.98) and although not reaching statistical significance, with the combined GG LEP rs2167270 and GG LEPR rs6588147 (OR 0.70, 95% CI 0.49, 1.02) genotypes. 18059035 2008
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0007102
Disease:
Malignant tumor of colon
0.010 GeneticVariation BEFREE We observed a slight reduction in colon cancer risk with the AA LEP rs2167270 genotype (OR 0.79 95% CI 0.64, 0.98) and although not reaching statistical significance, with the combined GG LEP rs2167270 and GG LEPR rs6588147 (OR 0.70, 95% CI 0.49, 1.02) genotypes. 18059035 2008
dbSNP: rs28954113
rs28954113
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028754
Disease:
Obesity
0.030 GeneticVariation BEFREE The obese phenotype-inducing N82K mutation in human leptin disrupts receptor-binding and biological activity. 20307995 2010
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE LEP rs2167270 polymorphism does not seem to be a genetic risk factor for disease susceptibility or clinically evident CV disease and subclinical atherosclerosis in patients with RA. 21385539 2011
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE LEP rs2167270 polymorphism does not seem to be a genetic risk factor for disease susceptibility or clinically evident CV disease and subclinical atherosclerosis in patients with RA. 21385539 2011
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0003850
Disease:
Arteriosclerosis
0.010 GeneticVariation BEFREE LEP rs2167270 polymorphism does not seem to be a genetic risk factor for disease susceptibility or clinically evident CV disease and subclinical atherosclerosis in patients with RA. 21385539 2011
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0004153
Disease:
Atherosclerosis
0.010 GeneticVariation BEFREE LEP rs2167270 polymorphism does not seem to be a genetic risk factor for disease susceptibility or clinically evident CV disease and subclinical atherosclerosis in patients with RA. 21385539 2011
dbSNP: rs1800564
rs1800564
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0001973
Disease:
Alcoholic Intoxication, Chronic
0.010 GeneticVariation BEFREE In this study, we explored whether functionally relevant genetic polymorphisms in SRD5A2 (V89L, A49T, [TA](n)) are linked to alcohol addiction and craving. 22707254 2012
dbSNP: rs199647957
rs199647957
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE The IL-6 G174C polymorphism was also associated obesity when using allelic comparisons, the recessive genetic model and the dominant genetic model with OR (95% CI) of 1.95 (1.37-2.77), 1.44 (1.15-1.80), and 1.36 (1.16-1.59), respectively. 21660081 2012
dbSNP: rs2071045
rs2071045
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0027794
Disease:
Neural Tube Defects
0.010 GeneticVariation BEFREE Additionally, maternal LEP rs2071045 (RR = 1.31, 95% CI: 1.08, 1.60) and offspring UCP2 rs660339 (RR = 1.32, 95% CI: 1.06, 1.64) were associated with NTD risk. 23132673 2012
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE These findings suggest that the LEP A19G (rs2167270) genetic polymorphism may decrease the susceptibility to cancers in colorectal cancer and non-Hodgkin's lymphoma, when assuming a homozygote codominant model and a recessive genetic model among Latin American population. 24845032 2014
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C1306459
Disease:
Primary malignant neoplasm
0.020 GeneticVariation BEFREE Overall, the LEP A19G (rs2167270) genetic polymorphism was associated with lower cancer risk. 24845032 2014
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0006826
Disease:
Malignant Neoplasms
0.020 GeneticVariation BEFREE Overall, the LEP A19G (rs2167270) genetic polymorphism was associated with lower cancer risk. 24845032 2014
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C4721532
Disease:
Lymphoma, Non-Hodgkin, Familial
0.010 GeneticVariation BEFREE These findings suggest that the LEP A19G (rs2167270) genetic polymorphism may decrease the susceptibility to cancers in colorectal cancer and non-Hodgkin's lymphoma, when assuming a homozygote codominant model and a recessive genetic model among Latin American population. 24845032 2014
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0220605
Disease:
Adult Non-Hodgkin Lymphoma
0.010 GeneticVariation BEFREE These findings suggest that the LEP A19G (rs2167270) genetic polymorphism may decrease the susceptibility to cancers in colorectal cancer and non-Hodgkin's lymphoma, when assuming a homozygote codominant model and a recessive genetic model among Latin American population. 24845032 2014
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0220612
Disease:
Childhood Non-Hodgkin Lymphoma
0.010 GeneticVariation BEFREE These findings suggest that the LEP A19G (rs2167270) genetic polymorphism may decrease the susceptibility to cancers in colorectal cancer and non-Hodgkin's lymphoma, when assuming a homozygote codominant model and a recessive genetic model among Latin American population. 24845032 2014
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE These findings suggest that the LEP A19G (rs2167270) genetic polymorphism may decrease the susceptibility to cancers in colorectal cancer and non-Hodgkin's lymphoma, when assuming a homozygote codominant model and a recessive genetic model among Latin American population. 24845032 2014
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE These findings suggest that the LEP A19G (rs2167270) genetic polymorphism may decrease the susceptibility to cancers in colorectal cancer and non-Hodgkin's lymphoma, when assuming a homozygote codominant model and a recessive genetic model among Latin American population. 24845032 2014
dbSNP: rs104894023
rs104894023
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C3554224
Disease:
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 GeneticVariation UNIPROT Biologically inactive leptin and early-onset extreme obesity. 25551525 2015
dbSNP: rs28954113
rs28954113
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028754
Disease:
Obesity
0.030 GeneticVariation BEFREE We now describe two siblings, a 9-year-old girl and a 6-year-old boy with severe early-onset obesity and hyperphagia, both homozygous for a c.309C>A substitution in the leptin gene leading to a p.N103K amino acid exchange in the protein and detectable circulating levels of leptin. 26186301 2015