Annotation Detail

Information
Associated Genes
CYP19A1
Associated Variants
CYP19A1 c.*161T>G ( ENST00000396404.8, ENST00000396402.6, ENST00000559878.5 )
CYP19A1 c.858+26C>T ( ENST00000396404.8, ENST00000396402.6, ENST00000559878.5 )
CYP19A1 c.-38-10307T>C ( ENST00000396402.6, ENST00000396404.8, ENST00000557858.5 )
CYP19A1 c.*161T>G ( ENST00000396402.6, ENST00000396404.8, ENST00000559878.5 )
CYP19A1 c.858+26C>T ( ENST00000396402.6, ENST00000396404.8, ENST00000559878.5 )
CYP19A1 c.-38-10307T>C ( ENST00000396402.6, ENST00000396404.8, ENST00000557858.5 )
Associated Disease
Impaired cognition
Source Database
DisGeNET
Description
We analyzed the role of 3 CYP19 single-nucleotide polymorphisms (rs12907866, rs17601241, rs4646) in AD development and their possible influence on quantitative traits reflecting disease severity (age at onset and cognitive decline) in 319 patients and 110 controls.
Pubmed
19478482
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2009
Drugs