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
- The 103Ile allele of the Val103Ile single nucleotide polymorphism (SNP) of the melanocortin-4 receptor gene (MC4R) was the first confirmed polygenetic variant with an influence on the body mass index (BMI); the more common Val103 allele is more frequent in obese individuals.
- Pubmed
- 20054160
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.790574886740879
- Year of publication
- 2008
Drugs