rs1478693
This is a intron variant variant in the RBFOX1 gene.
▶Research that mentions this SNP (1)
▶A genome‐wide association study of sleep habits and insomniaAssociationN=4,357Enda M. Byrne et al.(2013)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Genome-wide association study of 2,323 Australian twins identified several associations with sleep phenotypes including sleep latency, sleep quality, sleep duration, and insomnia, but no genome-wide significant variants. Most notable finding: SNPs in CACNA1C intron 3 (rs7316184, rs7304986, rs7301906, and others) showed strongest association with sleep latency (p = 1.3 × 10⁻⁶), though this did not replicate in independent Chronogen Consortium sample. Additional associations with insomnia factor score (rs11174478 in SLC2A13, p = 1.92 × 10⁻⁶) and sleep duration (rs4780805, p = 2.66 × 10⁻⁶) were identified but remain unreplicated.
About RBFOX1
The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
View all RBFOX1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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