Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
AKR1C3 c.447+66A>G
(
ENST00000439082.7,
ENST00000380554.5,
ENST00000605149.5 )
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000423400.7, ENST00000641820.1, ENST00000376583.7, ENST00000376585.6 )
AKR1C3 c.447+66A>G ( ENST00000380554.5, ENST00000439082.7, ENST00000605149.5 )
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- childhood leukemia
- Source Database
- DisGeNET
- Description
- The maternal methylenetetrahydrofolate reductase A1298C polymorphism was found to be an effect modifier of the maternal intron 4 polymorphism of the AKR1C3 gene (rs10508293) and the childhood leukemia risk.
- Pubmed
- 18339682
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2008
Drugs