Annotation Detail

Information
Associated Genes
CYP19A1
Associated Variants
CYP19A1 c.146-573C>T ( ENST00000559878.5, ENST00000405913.7, ENST00000396402.6, ENST00000396404.8, ENST00000557858.5 )
CYP19A1 c.146-573C>T ( ENST00000396402.6, ENST00000396404.8, ENST00000405913.7, ENST00000557858.5, ENST00000559878.5 )
Associated Disease
hyperandrogenism
Source Database
DisGeNET
Description
Several studies have reported the association of the SNP rs2414096 in the CYP19 gene with hyperandrogenism, which is one of the clinical manifestations of polycystic ovary syndrome (PCOS).
Pubmed
20015405
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00290991572276264
Year of publication
2009
Drugs