Annotation Detail
Information
- Associated Genes
- CASP8
- Associated Variants
-
CASP8 MUTATION
CASP8 MUTATION
rs17028658 ( ENST00000547776.6, ENST00000341752.11, ENST00000549558.6, ENST00000547010.5 )
IL16 SNV ( ENST00000302987.10 )
ENSG00000266202 p.Cys87= (p.C87=)
CCR7 c.11-2702A>G ( ENST00000246657.2 )
CASP8 p.Asp344His (p.D344H) ( ENST00000264275.9, ENST00000323492.11, ENST00000358485.8, ENST00000392263.6, ENST00000413726.6, ENST00000432109.6, ENST00000440732.6, ENST00000444430.3, ENST00000450491.6, ENST00000673742.1, ENST00000696067.1, ENST00000696069.1, ENST00000696085.1, ENST00000696087.1 )
CCNH p.Val270Ala (p.V270A) ( ENST00000256897.9, ENST00000504878.1, ENST00000508855.5, ENST00000713562.1 )
CCNH p.Val270Asp (p.V270D) ( ENST00000256897.9, ENST00000504878.1, ENST00000508855.5, ENST00000713562.1 )
rs17028658 ( ENST00000341752.11, ENST00000547010.5, ENST00000547776.6, ENST00000549558.6 )
IL16 SNV ( ENST00000302987.10 )
ENSG00000266202 p.Cys87= (p.C87=)
CCR7 c.11-2702A>G ( ENST00000246657.2 )
CASP8 p.Asp344His (p.D344H) ( ENST00000264275.9, ENST00000323492.11, ENST00000358485.8, ENST00000392263.6, ENST00000413726.6, ENST00000432109.6, ENST00000440732.6, ENST00000444430.3, ENST00000450491.6, ENST00000673742.1, ENST00000696067.1, ENST00000696069.1, ENST00000696085.1, ENST00000696087.1 )
CCNH p.Val270Ala (p.V270A) ( ENST00000256897.9, ENST00000504878.1, ENST00000508855.5, ENST00000713562.1 )
CCNH p.Val270Asp (p.V270D) ( ENST00000256897.9, ENST00000504878.1, ENST00000508855.5, ENST00000713562.1 ) - Associated Disease
- chronic lymphocytic leukemia
- Source Database
- DisGeNET
- Description
- After adjustment for multiple testing, we found a strong association between CLL risk and six genetic variants: CCNH (rs2266690, V270A), APAF1 (rs17028658, 3'region), IL16 (rs4505265, first intron), CASP8 (rs1045485, D302H), NOS2A (rs2779251, promoter), and CCR7 (rs3136687, intron 1).
- Pubmed
- 19074885
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.123995683211084
- Year of publication
- 2008
Drugs