Annotation Detail
Information
- Associated Genes
- MTRR
- Associated Variants
-
SHMT1 p.Leu474Phe (p.L474F)
(
ENST00000316694.8,
ENST00000354098.7 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 ) - Associated Disease
- autistic disorder
- Source Database
- DisGeNET
- Description
- MTHFR C677T is a risk factor, whereas MTRR A66G and SHMT C1420T polymorphisms reduce risk for autism.
- Pubmed
- 19440165
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2009
Drugs