Annotation Detail
Information
- Associated Genes
- HSD17B1
- 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 )
HSD17B1 p.Gly314Ser (p.G314S) ( ENST00000225929.5, ENST00000585807.6 )
HSD17B1 p.Gly314Arg (p.G314R) ( ENST00000225929.5, ENST00000585807.6 )
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 )
HSD17B1 p.Gly314Ser (p.G314S) ( ENST00000225929.5, ENST00000585807.6 )
HSD17B1 p.Gly314Arg (p.G314R) ( ENST00000225929.5, ENST00000585807.6 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- In a case-control study of Chinese women, we examined genotypes of the CYP11A1 pentanucleotide [(TAAAA)n] repeat (D15S520), CYP17A1 rs743572, and HSD17B1 rs605059 polymorphisms in relation to the risk of breast cancer and fibrocystic breast conditions, comparing 615 women with breast cancer and 467 women with fibrocystic breast conditions separately with 879 women without clinical breast disease.
- Pubmed
- 18483327
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.041944139738837
- Year of publication
- 2008
Drugs