Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
MTHFR p.Ala263Val (p.A263V) ( ENST00000376585.6, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
Associated Disease
Lead Poisoning
Source Database
DisGeNET
Description
[The maternal MTHFR 677T allele is an independent predictor of poorer child neurodevelopment at 24 mo. These results suggest that maternal genetic variations in folate metabolism during pregnancy may program offspring neurodevelopment trajectories. Further]
Pubmed
20504979
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.00236703197860203
Year of publication
2010
Drugs