MC4R, melanocortin 4 receptor, 4160

N. diseases: 149; N. variants: 58
Disease: Hyperglycemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369841551
rs369841551
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0020456
Disease:
Hyperglycemia 		A 0.700 CausalMutation CLINVAR Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort. 27654141 2017
dbSNP: rs369841551
rs369841551
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0020456
Disease:
Hyperglycemia 		A 0.700 CausalMutation CLINVAR Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. 12646665 2003
dbSNP: rs369841551
rs369841551
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0020456
Disease:
Hyperglycemia 		A 0.700 CausalMutation CLINVAR The Protein Data Bank. 10592235 2000
dbSNP: rs369841551
rs369841551
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0020456
Disease:
Hyperglycemia 		A 0.700 CausalMutation CLINVAR Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. 10199800 1999