rs7074440
This is a intron variant variant in the TCF7L2 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶A candidate functional SNP rs7074440 in TCF7L2 alters gene expression through C‐FOS in hepatocytesFunctionalXianying Piao et al.(2018)· FEBS Letters
This functional genomic study identified 16 transcription factor binding-disrupting SNPs across reported bipolar disorder (BD) GWAS loci and elucidated their regulatory mechanisms. Using eQTL analysis, CRISPR/Cas9 editing, and functional assays, the authors demonstrated that rs10896081 disrupts PBX3 binding to regulate PACS1 and YIF1A expression, and that rs3862386 similarly regulates PACS1 expression. PACS1 overexpression affected dendritic spine density in neurons, suggesting a mechanistic link between these functional SNPs and BD risk through regulation of genes involved in synaptic function.
About TCF7L2
This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
View all TCF7L2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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