Annotation Detail
Information
- Associated Genes
- SLC19A1
- Associated Variants
-
SLC19A1 MUTATION
SLC19A1 MUTATION
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 ) - Associated Disease
- autistic disorder
- Source Database
- DisGeNET
- Description
- Subsequent log linear analysis of the RFC1 A80G genotype within family trios revealed that the maternal G allele was associated with a significant increase in risk of autism whereas the inherited genotype of the child was not.
- Pubmed
- 20468076
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.12027144187208
- Year of publication
- 2010
Drugs