Annotation Detail

Information
Associated Genes
CYP17A1
Associated Variants
SRD5A2 p.Ala88= (p.A88=) ( ENST00000622030.2 )
SRD5A2 p.Leu89Val (p.L89V) ( ENST00000622030.2 )
Associated Disease
Malignant neoplasm of ovary
Source Database
DisGeNET
Description
No association was observed for the vast majority of polymorphisms, but there was suggestive evidence for altered risk of ovarian cancer death associated with the CYP17 5'UTR C allele (HR 1.30; 95% CI=1.02-1.68, p= 0.04), and for the SRD5A2 V89L C allele (HR 0.79; 95% CI=0.62-1.01, p=0.06).
Pubmed
17182175
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00872974716828791
Year of publication
2007
Drugs