Annotation Detail
Information
- Associated Genes
- HTR2C
- Associated Variants
-
HTR2C p.Cys23= (p.C23=)
(
ENST00000276198.6,
ENST00000371950.3,
ENST00000371951.5 )
HTR2C p.Ser23Cys (p.S23C) ( ENST00000276198.6, ENST00000371950.3, ENST00000371951.5 ) - Associated Disease
- Pituitary Diseases
- Source Database
- DisGeNET
- Description
- Previously we have shown that a functional nonsynonymous single nucleotide polymorphism (rs6318) of the 5HTR2C gene located on the X-chromosome is associated with hypothalamic-pituitary-adrenal axis response to a stress recall task, and with endophenotypes associated with cardiovascular disease (CVD).
- Pubmed
- 24386118
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2013
Drugs