Annotation Detail
Information
- Associated Genes
- SLC6A2
- Associated Variants
-
SLC6A2 MUTATION
SLC6A2 MUTATION
EPHX1 p.His139Arg (p.H139R) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
EPHX1 p.His139Leu (p.H139L) ( ENST00000614058.4, ENST00000366837.5, ENST00000272167.10 )
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 )
EPHX1 p.His139Arg (p.H139R) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
EPHX1 p.His139Leu (p.H139L) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 ) - Associated Disease
- Malignant neoplasm of lung
- Source Database
- DisGeNET
- Description
- However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val), SOD2 (Val16Ala), EPHX1 (His139Arg) genes and the NAT1 fast acetylator phenotype remained significantly associated with lung cancer.
- Pubmed
- 18258609
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00217153497664243
- Year of publication
- 2008
Drugs