Annotation Detail
Information
- Associated Genes
- CYP17A1
- Associated Variants
-
SULT1A1 p.Arg213His (p.R213H)
(
ENST00000569554.5,
ENST00000314752.12 )
COMT p.Val158Met (p.V158M) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
SULT1A1 p.Arg213His (p.R213H) ( ENST00000314752.12, ENST00000569554.5 )
COMT p.Val158Met (p.V158M) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 ) - Associated Disease
- Breast Cancer, Familial
- Source Database
- DisGeNET
- Description
- This case control study investigated whether polymorphisms of estrogen metabolizing genes CYP1A1 MspI, CYP17 MspAI, COMT Val(158) Met, and SULT1A1 Arg(213) His have any role in familial breast cancer susceptibility risk.
- Pubmed
- 19863350
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2010
Drugs