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
- In humans, MC4R mutations that lead to an impaired receptor function are associated with obesity; in contrast, the most frequent polymorphism (Val103Ile, rs2229616; heterozygote frequency approximately 2%) was shown to be negatively associated with obesity.
- Pubmed
- 18377640
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.790574886740879
- Year of publication
- 2008
Drugs