Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28954113
rs28954113
LEP
0.030 GeneticVariation BEFREE The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in Pakistan. 27075752

2016
dbSNP: rs28954113
rs28954113
LEP
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
LEP
0.030 GeneticVariation BEFREE The obese phenotype-inducing N82K mutation in human leptin disrupts receptor-binding and biological activity. 20307995

2010