Annotation Detail
Information
- Associated Genes
- CASP9
- Associated Variants
-
rs12415607
CASP5 p.Thr119Ser (p.T119S) ( ENST00000260315.8, ENST00000444749.6, ENST00000418434.5, ENST00000531367.5, ENST00000526056.5, ENST00000393141.6 )
CASP5 p.Thr119Ala (p.T119A) ( ENST00000526056.5, ENST00000393141.6, ENST00000444749.6, ENST00000418434.5, ENST00000531367.5, ENST00000260315.8 )
CASP5 p.Thr119Pro (p.T119P) ( ENST00000260315.8, ENST00000393141.6, ENST00000526056.5, ENST00000418434.5, ENST00000444749.6, ENST00000531367.5 )
rs4645981
rs12415607
CASP5 p.Thr119Ser (p.T119S) ( ENST00000260315.8, ENST00000393141.6, ENST00000418434.5, ENST00000444749.6, ENST00000526056.5, ENST00000531367.5 )
CASP5 p.Thr119Ala (p.T119A) ( ENST00000260315.8, ENST00000393141.6, ENST00000418434.5, ENST00000444749.6, ENST00000526056.5, ENST00000531367.5 )
CASP5 p.Thr119Pro (p.T119P) ( ENST00000260315.8, ENST00000393141.6, ENST00000418434.5, ENST00000444749.6, ENST00000526056.5, ENST00000531367.5 )
rs4645981 - Associated Disease
- Carcinoma of lung
- Source Database
- DisGeNET
- Description
- Meta-analysis results showed positive associations between heterozygote (A/G) of rs507879 in the CASP-5 gene, the T allele of rs12415607 in the CASP-7 gene, and the T allele and T carrier (C/T+T/T) of rs4645981 in the CASP-9 gene with lung cancer susceptibility [odds ratio (OR) = 1.83, 95% confidence interval (95%CI) = 1.07-3.12, P = 0.03; OR = 1.18, 95%CI = 1.02-1.37, P = 0.03; OR = 1.43, 95%CI = 1.12-1.81, P = 0.004; OR = 1.46, 95%CI = 1.10-1.93, P = 0.009; respectively].
- Pubmed
- 23315881
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00217153497664243
- Year of publication
- 2014
Drugs