Annotation Detail

Information
Associated Genes
CYP17A1
Associated Variants
CYP17A1 c.-34T>C ( ENST00000638190.1, ENST00000638971.1, ENST00000369887.4, ENST00000638272.1, ENST00000639393.1 )
CYP17A1 c.-34T>A ( ENST00000639393.1, ENST00000638272.1, ENST00000369887.4, ENST00000638190.1, ENST00000638971.1 )
CYP17A1 c.-34T>C ( ENST00000369887.4, ENST00000638190.1, ENST00000638272.1, ENST00000638971.1, ENST00000639393.1 )
CYP17A1 c.-34T>A ( ENST00000369887.4, ENST00000638190.1, ENST00000638272.1, ENST00000638971.1, ENST00000639393.1 )
Associated Disease
Malignant neoplasm of endometrium
Source Database
DisGeNET
Description
The position -34T/C variant in CYP17A1 appears to be associated with reduced risk of endometrial cancer, with those homozygous for the variant allele having about half the risk of those homozygous for the wild type.
Pubmed
17110639
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00325730246496364
Year of publication
2007
Drugs