Annotation Detail

Information
Associated Genes
SOD2
Associated Variants
SOD2 MUTATION
SOD2 MUTATION
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 )
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 )
Associated Disease
asthma
Source Database
DisGeNET
Description
To investigate the association of the manganese-containing form of SOD (MnSOD) gene at amino acid position 16 (Val16Ala) and catalase gene in the promoter at A-21T and C-262T polymorphisms and asthma in a Hong Kong Chinese population.
Pubmed
16630148
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00581983144552528
Year of publication
2006
Drugs