Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Val103Ile (p.V103I)
(
ENST00000299766.5 )
MC4R p.Val103Ile (p.V103I) ( ENST00000299766.5 ) - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- Our study confirms previous findings of a meta-analysis that the relatively infrequent G/A genotype of the V103I MC4R polymorphism is negatively associated with above average weight and obesity in population based original data of 7937 participants, and extends previous findings by showing for the first time a significantly lower BMI in individuals carrying the infrequent allele of this MC4R variant.
- Pubmed
- 15805150
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.790574886740879
- Year of publication
- 2005
Drugs