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 )
rs2987983 ( ENST00000554572.5, ENST00000358599.9 )
CYP19A1 p.Arg264Cys (p.R264C) ( ENST00000396404.8, ENST00000559878.5, ENST00000396402.6 )
ESR1 c.453-397T>C ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
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 )
rs2987983 ( ENST00000358599.9, ENST00000554572.5 )
CYP19A1 p.Arg264Cys (p.R264C) ( ENST00000396402.6, ENST00000396404.8, ENST00000559878.5 )
ESR1 c.453-397T>C ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2234693) and ESR2 (rs2987983); estrogen biosynthesis enzymes, CYP17A1 (rs743572); and aromatase, CYP19A1 (rs700519) with breast cancer risk.
- Pubmed
- 24430361
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0968293960689788
- Year of publication
- 2013
Drugs