Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
MTHFR c.*372A>C ( ENST00000376585.6, ENST00000376583.7, ENST00000423400.7, ENST00000376590.9, ENST00000376592.6 )
MTHFR c.*372A>C ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7 )
Associated Disease
Meningomyelocele
Source Database
DisGeNET
Description
In addition, we also show a positive association between the SNP rs4846049 in the 3'-untranslated region of the MTHFR gene and the attention-deficit hyperactivity disorder phenotype in myelomeningocele participants.
Pubmed
23227261
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.125819831445525
Year of publication
2012
Drugs