rs12193738
This is a intron variant variant in the KIAA0319 gene.
▶Research that mentions this SNP (1)
▶Association of reading disabilities with regions marked by acetylated H3 histones in KIAA0319AssociationN=291Jillian M. Couto et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This family-based association study identifies SNP markers in KIAA0319 and VMP/NRSN1 genes associated with reading disability, with the strongest finding for rs6935076 in KIAA0319 (χ² = 6.025, P = 0.014). Using chromatin immunoprecipitation (ChIP-chip) to map regulatory elements, the authors identified acetylated histone H3 marks at a 2.7 kb region spanning the 5' untranslated region and intron 1 of KIAA0319, which overlaps with multiple previously and newly identified associated markers. Integration of genetic and epigenomic data narrows the candidate region for reading disability risk variants on chromosome 6p.
About KIAA0319
This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
View all KIAA0319 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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