Annotation Detail
Information
- Associated Genes
- BHMT
- Associated Variants
-
BHMT p.Arg239Gln (p.R239Q)
(
ENST00000274353.10,
ENST00000524080.1 )
BHMT p.Arg239Gln (p.R239Q) ( ENST00000274353.10, ENST00000524080.1 ) - Associated Disease
- Neural Tube Defects
- Source Database
- DisGeNET
- Description
- [BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor.]
- Pubmed
- 17035141
- Original source reporting the Gene Disease association
- GAD
- DisGENET score for the Gene Disease association
- 0.124734063957204
- Year of publication
- 2006
Drugs