rs10039254
This is a intron variant variant in the ADAMTS2 gene.
▶Research that mentions this SNP (1)
▶Genome‐wide association scan of the time to onset of attention deficit hyperactivity disorderAssociationN=930Jessica Lasky‐Su et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Genome-wide association scan of 930 ADHD proband-parent trios genotyped on 429,981 autosomal SNPs to identify associations with age of ADHD symptom onset. No genome-wide significant associations were found (lowest p-value 1.02×10⁻⁷ at rs9451437 on chromosome 6), but 14 SNPs showed p-values <10⁻⁵, with the most promising findings in SLC9A9 (6 distinct regions with nominal associations including rs130575, rs552655, rs13353224, rs708188, rs13057533).
About ADAMTS2
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
View all ADAMTS2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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