Annotation Detail
Information
- Associated Genes
- CASP8
- Associated Variants
-
HDDC3 c.*269A>G
(
ENST00000394275.7,
ENST00000394272.8,
ENST00000646620.1,
ENST00000330334.7 )
MYCL c.*978G>T ( ENST00000397332.3, ENST00000372816.3 )
CASP8 c.*464T>C ( ENST00000323492.11, ENST00000358485.8, ENST00000413726.6, ENST00000444430.3, ENST00000673742.1, ENST00000696067.1, ENST00000696069.1, ENST00000696085.1, ENST00000696087.1 )
ITIH4 c.90+434A>G, ENSG00000243696 c.*222+434A>G ( ENST00000266041.9, ENST00000406595.5, ENST00000485816.5 )
DROSHA c.*92T>C ( ENST00000344624.8, ENST00000511367.6, ENST00000513349.5 )
HDDC3 c.*269A>G ( ENST00000394275.7, ENST00000330334.7, ENST00000394272.8, ENST00000646620.1 )
MYCL c.*978G>T ( ENST00000372816.3, ENST00000397332.3 )
CASP8 c.*464T>C ( ENST00000323492.11, ENST00000358485.8, ENST00000413726.6, ENST00000444430.3, ENST00000673742.1, ENST00000696067.1, ENST00000696069.1, ENST00000696085.1, ENST00000696087.1 )
ITIH4 c.90+434A>G, ENSG00000243696 c.*222+434A>G ( ENST00000266041.9, ENST00000406595.5, ENST00000485816.5 )
DROSHA c.*92T>C ( ENST00000344624.8, ENST00000511367.6, ENST00000513349.5 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively.
- Pubmed
- 25390939
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0491971254148845
- Year of publication
- 2014
Drugs