Annotation Detail
Information
- Associated Genes
- CYP1B1
- 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 )
CYP1B1 p.Asn453Ser (p.N453S) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Asn453Thr (p.N453T) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
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 )
CYP1B1 p.Asn453Ser (p.N453S) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Asn453Thr (p.N453T) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (het) = 0.003) and within CYP17A1 (rs743572; p (het) = 0.009) in which never users of HT were at a decreased risk of breast cancer, while ever users were at a non-significant increased risk.
- Pubmed
- 22418777
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0168293960689788
- Year of publication
- 2012
Drugs