Annotation Detail
Information
- Associated Genes
- CCNE1
- Associated Variants
-
CDKN1B c.-79T>C
(
ENST00000228872.9,
ENST00000614874.2 )
CCNE1 c.180+539T>C ( ENST00000262643.8, ENST00000357943.9, ENST00000444983.6 )
CDKN1A c.-6+2241A>T ( ENST00000244741.10, ENST00000373711.3, ENST00000405375.5, ENST00000448526.6, ENST00000615513.4 )
CDKN2A c.150+459T>C ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2 )
rs3218005
CDKN1B c.-79T>C ( ENST00000228872.9, ENST00000614874.2 )
CCNE1 c.180+539T>C ( ENST00000262643.8, ENST00000357943.9, ENST00000444983.6 )
CDKN1A c.-6+2241A>T ( ENST00000244741.10, ENST00000373711.3, ENST00000405375.5, ENST00000448526.6, ENST00000615513.4 )
CDKN2A c.150+459T>C ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2 )
rs3218005 - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing).
- Pubmed
- 18174243
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0135397559956127
- Year of publication
- 2008
Drugs