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 )
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 )
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 ) - Associated Disease
- male infertility
- Source Database
- DisGeNET
- Description
- The results indicated that the PON1 Arg192Glu (rs662) and SOD2 Val16Ala (rs4880) variant genotypes were associated with a significantly higher risk of male infertility.
- Pubmed
- 22206979
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.122638473850682
- Year of publication
- 2012
Drugs