Annotation Detail
Information
- Associated Genes
- ESR1
- Associated Variants
-
ESR2 c.*39G>A
(
ENST00000556275.5,
ENST00000553796.5,
ENST00000555278.5,
ENST00000353772.7,
ENST00000341099.6,
ENST00000554572.5,
ENST00000557772.5,
ENST00000267525.10,
ENST00000358599.9 )
CYP19A1 c.146-573C>T ( ENST00000559878.5, ENST00000405913.7, ENST00000396402.6, ENST00000396404.8, ENST00000557858.5 )
LEPR p.Gln223Arg (p.Q223R) ( ENST00000344610.12, ENST00000371058.1, ENST00000371060.7, ENST00000616738.4, ENST00000371059.7, ENST00000349533.11 )
ESR1 c.453-397T>C ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
rs7799039
ESR2 c.*39G>A ( ENST00000267525.10, ENST00000341099.6, ENST00000353772.7, ENST00000358599.9, ENST00000553796.5, ENST00000554572.5, ENST00000555278.5, ENST00000556275.5, ENST00000557772.5 )
CYP19A1 c.146-573C>T ( ENST00000396402.6, ENST00000396404.8, ENST00000405913.7, ENST00000557858.5, ENST00000559878.5 )
LEPR p.Gln223Arg (p.Q223R) ( ENST00000344610.12, ENST00000349533.11, ENST00000371058.1, ENST00000371059.7, ENST00000371060.7, ENST00000616738.4 )
ESR1 c.453-397T>C ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
rs7799039 - Associated Disease
- gynecomastia
- Source Database
- DisGeNET
- Description
- Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (rs2234693), ER beta (rs4986938), leptin (rs7799039), and leptin receptor (rs1137101) gene polymorphisms and gynecomastia.
- Pubmed
- 24625355
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2014
Drugs