Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Ser127Leu (p.S127L)
(
ENST00000299766.5 )
MC4R p.Ser127Leu (p.S127L) ( ENST00000299766.5 ) - Associated Disease
- Obesity, Morbid
- Source Database
- DisGeNET
- Description
- Overall, this study suggest that S127L may be the most frequent functional MC4R mutation leading to the severe obesity in general population and provides new insight into the functionality of population based variants of the MC4R.
- Pubmed
- 24385306
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0189685934372187
- Year of publication
- 2013
Drugs