Annotation Detail
Information
- Associated Genes
- SLC6A3
- Associated Variants
-
DRD2 c.724-353G>T
(
ENST00000544518.5,
ENST00000346454.7,
ENST00000538967.5,
ENST00000542968.5,
ENST00000362072.8 )
SLC6A3 c.*328G>A ( ENST00000270349.12, ENST00000713696.1 )
DRD2 c.724-353G>T ( ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000544518.5 )
SLC6A3 c.*328G>A ( ENST00000270349.12, ENST00000713696.1 ) - Associated Disease
- attention deficit hyperactivity disorder
- Source Database
- DisGeNET
- Description
- Three dopamine transporter gene (SLC6A3/DAT1) polymorphisms (intron8 5/6 VNTR, 3'-UTR 9/10 VNTR, rs27072 in the 3'-UTR) and one dopamine D2 receptor gene (DRD2) variant (rs2283265) were selected for genotyping based on à priori evidence of regulatory activity or, in the case of DAT1 9/10 VNTR, commonly reported associations with ADHD.
- Pubmed
- 24780147
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.340018448294739
- Year of publication
- 2014
Drugs