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
0.800 GeneticVariation UNIPROT Biologically inactive leptin and early-onset extreme obesity. 25551525 2015
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: 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: rs28954113
rs28954113
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028754
Disease:
Obesity
0.030 GeneticVariation BEFREE The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in Pakistan. 27075752 2016
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
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: C1306459
Disease:
Primary malignant neoplasm
0.020 GeneticVariation BEFREE Leptin rs2167270 G > A (G19A) polymorphism may decrease the risk of cancer: A case-control study and meta-analysis involving 19 989 subjects. 30697798 2019
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0006826
Disease:
Malignant Neoplasms
0.020 GeneticVariation BEFREE Leptin rs2167270 G > A (G19A) polymorphism may decrease the risk of cancer: A case-control study and meta-analysis involving 19 989 subjects. 30697798 2019
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE Two variants in the leptin gene showed statistically significant associations with CRC among women: LEP rs2167270 (OR = 1.13, 95% CI: 1.06-1.21) and LEP rs4731426 (OR = 1.09, 95% CI: 1.02-1.17). 30379922 2018
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: rs3828942
rs3828942
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0003469
Disease:
Anxiety Disorders
0.010 GeneticVariation BEFREE Leptin is suggested to be related with the neurobiology of anxiety disorders in a sex-dependent manner since women carrying the A-allele of LEP rs3828942 present a higher risk for GAD, while leptin levels seem to be lower in men with GAD carrying A-allele. 31420734 2019
dbSNP: rs13228377
rs13228377
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE We observed that LEP polymorphism (rs13228377) was associated with higher serum leptin levels in asthma and these two variables had high predictive value for asthma risk (P = 0.007, odds ratio 17.5, predictive accuracy 83.9%). 30203371 2018
dbSNP: rs200343690
rs200343690
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE This study was to investigate the prevalence of single nucleotide polymorphisms (SNPs) in RETN gene 420C/G; 44G/A; 62G/A; 394C/G and 299 G/A and their association with Resistin level and obesity in Tunisian volunteers. 28393393 2018
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE This case-control study highlights that <i>LEP</i> rs7799039 A>G and rs2167270 G>A polymorphisms increase the susceptibility to HCC; however, <i>LEPR</i> rs6588147 G>A polymorphism may be a protective factor for HCC in Eastern Chinese Han population. 29695916 2018
dbSNP: rs4731426
rs4731426
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Two variants in the leptin gene showed statistically significant associations with CRC among women: LEP rs2167270 (OR = 1.13, 95% CI: 1.06-1.21) and LEP rs4731426 (OR = 1.09, 95% CI: 1.02-1.17). 30379922 2018
dbSNP: rs760165439
rs760165439
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE This study was to investigate the prevalence of single nucleotide polymorphisms (SNPs) in RETN gene 420C/G; 44G/A; 62G/A; 394C/G and 299 G/A and their association with Resistin level and obesity in Tunisian volunteers. 28393393 2018
dbSNP: rs2071045
rs2071045
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0031046
Disease:
Pericarditis
0.010 GeneticVariation BEFREE However, further analysis in patients with SLE showed that the TT genotype and T allele frequencies of the LEP rs2071045 polymorphism were nominally significantly higher in patients with pericarditis (P = 0.012, P = 0.011, respectively). 28244652 2017
dbSNP: rs2071045
rs2071045
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE However, further analysis in patients with SLE showed that the TT genotype and T allele frequencies of the LEP rs2071045 polymorphism were nominally significantly higher in patients with pericarditis (P = 0.012, P = 0.011, respectively). 28244652 2017
dbSNP: rs2167270
rs2167270
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0085207
Disease:
Gestational Diabetes
0.010 GeneticVariation BEFREE The results of our study suggest an association between adiponectin gene rs266729 as well as leptin gene rs2167270 polymorphisms and GDM. 28050671 2017
dbSNP: rs200487063
rs200487063
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Near the sites binding to TATA-binding protein (TBP) in human gene promoters, we found 22 obesity-related candidate SNP markers, including rs10895068 (male breast cancer in obesity); rs35036378 (reduced risk of obesity after ovariectomy); rs201739205 (reduced risk of obesity-related cancers due to weight loss by diet/exercise in obese postmenopausal women); rs183433761 (obesity resistance during a high-fat diet); rs367732974 and rs549591993 (both: cardiovascular complications in obese patients with type 2 diabetes mellitus); rs200487063 and rs34104384 (both: obesity-caused hypertension); rs35518301, rs72661131, and rs562962093 (all: obesity); and rs397509430, rs33980857, rs34598529, rs33931746, rs33981098, rs34500389, rs63750953, rs281864525, rs35518301, and rs34166473 (all: chronic inflammation in comorbidities of obesity). 26694100 2015