rs117683993 (ITSN1): UK Biobank GWAS Variant
Key takeaways
- Identified in a GWAS of 405,088 UK Biobank participants across 79 quantitative and 50 disease traits
- Found using Quickdraws, a method that detects roughly 5% more associations than the widely used REGENIE tool at comparable cost
- The specific health traits linked to this variant are not described in the available study text
- No replication data, p-values, or effect sizes for this variant specifically are reported in available sources
Key takeaways
- Identified in a genome-wide association study (GWAS) of 405,088 UK Biobank participants covering 79 quantitative and 50 binary traits
- Detected using Quickdraws, a Bayesian statistical method that finds more associations than older GWAS tools at similar computational cost
- The specific health traits linked to this variant are not detailed in the available study text
- No effect sizes or p-values for this specific variant are reported in the available source
- No lifestyle or dietary considerations are on file for this variant
What the research says rs117683993, in the ITSN1 gene, was identified as part of a large-scale GWAS applied to 405,088 UK Biobank participants analyzing 13.3 million variants across 79 quantitative and 50 binary traits. The analysis used Quickdraws, a method employing a spike-and-slab prior on variant effects (a statistical assumption that most variants have no effect, while a subset have real effects) and stochastic variational inference (a scalable approximation technique), which identified 4.97% more quantitative-trait associations and 3.25% more binary-trait associations than the widely used REGENIE method. The specific association results for rs117683993, including which traits it is linked to and the size of any effect, are not specified in the available text from this study.
Reported associations
- Large-scale GWAS discovery: rs117683993 was identified in a UK Biobank analysis of approximately 405,000 individuals across 129 total traits; the specific traits this variant is associated with are not described in the available study excerpt
Evidence quality The study identifying this variant analyzed 405,088 UK Biobank samples across 13.3 million variants, among the largest GWAS applications reported. At the aggregate level, signals detected by Quickdraws were replicated in the Biobank Japan and FinnGen cohorts, lending credibility to the overall method. However, the replication status, p-value, and effect size for rs117683993 specifically are not stated in the available text. Evidence for this particular variant must therefore be considered preliminary pending fuller reporting.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs117683993?
rs117683993 is a genetic variant located in the ITSN1 gene. It was identified in a large genome-wide association study of UK Biobank participants covering over 405,000 individuals and 13.3 million genetic variants.
What traits is rs117683993 linked to?
The study that identified this variant analyzed 79 quantitative and 50 binary traits in total, but the available text does not specify which of those traits rs117683993 is associated with.
How was rs117683993 discovered?
It was found using a method called Quickdraws, which applies Bayesian statistics with a spike-and-slab prior to identify more genetic associations than older GWAS tools at comparable computational cost.
How reliable is the evidence for rs117683993?
Evidence comes from a single large study of 405,088 individuals using a validated method. However, specific replication data, p-values, and effect sizes for this variant are not reported in available sources, so the evidence is considered preliminary.
What is the ITSN1 gene?
ITSN1 is the gene in which rs117683993 resides. The available study focuses on the statistical methodology used to detect associations and does not describe the biological role of ITSN1 in relation to this variant.