LEPR, leptin receptor, 3953

N. diseases: 416; N. variants: 57
Disease: LEPTIN RECEPTOR DEFICIENCY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1303050393
rs1303050393
Entrez Id: 3953
Gene Symbol: LEPR
LEPR
CUI: C3554225
Disease:
LEPTIN RECEPTOR DEFICIENCY 		0.700 GeneticVariation UNIPROT Seven novel deleterious LEPR mutations found in early-onset obesity: a ΔExon6-8 shared by subjects from Reunion Island, France, suggests a founder effect. 25751111 2015
dbSNP: rs1303050393
rs1303050393
Entrez Id: 3953
Gene Symbol: LEPR
LEPR
CUI: C3554225
Disease:
LEPTIN RECEPTOR DEFICIENCY 		0.700 GeneticVariation UNIPROT A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. 9537324 1998
dbSNP: rs1553174844
rs1553174844
Entrez Id: 3953
Gene Symbol: LEPR
LEPR
CUI: C3554225
Disease:
LEPTIN RECEPTOR DEFICIENCY 		AAG 0.700 CausalMutation CLINVAR
dbSNP: rs1557670950
rs1557670950
Entrez Id: 3953
Gene Symbol: LEPR
LEPR
CUI: C3554225
Disease:
LEPTIN RECEPTOR DEFICIENCY 		C 0.700 CausalMutation CLINVAR