Annotation Detail
Information
- Associated Genes
- XRCC2
- Associated Variants
-
LIG4 p.Asp568= (p.D568=)
(
ENST00000611712.4,
ENST00000687822.1,
ENST00000693040.1,
ENST00000405925.2,
ENST00000692222.1,
ENST00000686926.1,
ENST00000442234.6,
ENST00000688529.1,
ENST00000688455.1,
ENST00000690127.1,
ENST00000688396.1,
ENST00000686204.1,
ENST00000687164.1,
ENST00000688595.1,
ENST00000686913.1,
ENST00000685338.1,
ENST00000686095.1,
ENST00000689762.1,
ENST00000614526.2 )
XRCC2 p.Arg188His (p.R188H) ( ENST00000359321.2, ENST00000698506.1 )
CYP3A4 c.-392G>A
LIG4 p.Asp568= (p.D568=) ( ENST00000405925.2, ENST00000442234.6, ENST00000611712.4, ENST00000614526.2, ENST00000685338.1, ENST00000686095.1, ENST00000686204.1, ENST00000686913.1, ENST00000686926.1, ENST00000687164.1, ENST00000687822.1, ENST00000688396.1, ENST00000688455.1, ENST00000688529.1, ENST00000688595.1, ENST00000689762.1, ENST00000690127.1, ENST00000692222.1, ENST00000693040.1 )
XRCC2 p.Arg188His (p.R188H) ( ENST00000359321.2, ENST00000698506.1 )
CYP3A4 c.-392G>A - Associated Disease
- Malignant neoplasm of ovary
- Source Database
- DisGeNET
- Description
- Three of the 10 SNPs showed evidence of an association with ovarian cancer at P< or =0.10 in a log-additive model: rs2740574 in CYP3A4 (P=0.011), rs1805386 in LIG4 (P=0.007), and rs3218536 in XRCC2 (P=0.095).
- Pubmed
- 19127255
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00690559893384649
- Year of publication
- 2009
Drugs