Annotation Detail
Information
- Associated Genes
- GSTP1
- Associated Variants
-
ATM c.3576+687C>T
(
ENST00000713844.1,
ENST00000531525.3,
ENST00000601453.3,
ENST00000452508.7,
ENST00000278616.10,
ENST00000675843.1 )
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
SHBG p.Asp356Asn (p.D356N) ( ENST00000570547.5, ENST00000416273.7, ENST00000380450.9, ENST00000572182.5, ENST00000572262.5, ENST00000340624.9, ENST00000575314.5, ENST00000575903.5, ENST00000574539.5, ENST00000576478.5, ENST00000441599.6, ENST00000576728.5 )
ESR1 c.453-397T>C ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
AHR p.Arg554Lys (p.R554K) ( ENST00000242057.9, ENST00000642825.1 )
ATM c.3576+687C>T ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
SHBG p.Asp356Asn (p.D356N) ( ENST00000340624.9, ENST00000380450.9, ENST00000416273.7, ENST00000441599.6, ENST00000570547.5, ENST00000572182.5, ENST00000572262.5, ENST00000574539.5, ENST00000575314.5, ENST00000575903.5, ENST00000576478.5, ENST00000576728.5 )
ESR1 c.453-397T>C ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
AHR p.Arg554Lys (p.R554K) ( ENST00000242057.9, ENST00000642825.1 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- Five SNPs (AHR rs2066853, ATM rs1003623, ESR1 rs2234693, GSTP1 rs1695, and SHBG rs6259) showed generally consistent results in SBCS I and SBCS II and statistically significant associations with breast cancer risk in combined analyses, mostly in subgroups defined by age or menopausal status.
- Pubmed
- 21454829
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0192723729177015
- Year of publication
- 2011
Drugs