rs117178504 (DYNC2H1): UK Biobank GWAS Variant
Key takeaways
- rs117178504 is located at the DYNC2H1 locus and was identified in a UK Biobank GWAS of approximately 405,000 participants
- The discovery used Quickdraws, a method that detected up to 22.71% more associations than standard GWAS tools across quantitative traits
- The study analyzed 79 quantitative traits and 50 binary disease traits simultaneously in the same cohort
- Specific trait associations and effect sizes for rs117178504 are not yet reported in the available published data
Key takeaways
- rs117178504 is a genetic variant located at the DYNC2H1 locus, identified through a large-scale genome-wide association study (GWAS) of UK Biobank participants
- The study analyzed approximately 405,000 individuals across 79 quantitative traits and 50 binary (disease) traits simultaneously
- A statistical method called Quickdraws, which uses a spike-and-slab prior and stochastic variational inference, was used to detect this and other variants with higher power than previous tools
- Specific trait associations, p-values, and effect sizes for rs117178504 are not reported in the available study text
What the research says
rs117178504 is a variant at the DYNC2H1 locus, identified through a large-scale GWAS applying the Quickdraws algorithm to approximately 405,088 UK Biobank participants across 79 quantitative and 50 binary traits. Quickdraws employs a spike-and-slab prior - a statistical model that allows some variant effects to be exactly zero rather than merely small, capturing nonpolygenic trait architectures - combined with stochastic variational inference, an efficient mathematical optimization technique, to detect more associations than prior GWAS tools. Across all traits tested, Quickdraws identified 4.97% and 3.25% more associations than REGENIE, and 22.71% and 7.07% more than FastGWA, for quantitative and binary traits respectively, though the specific traits and effect sizes linked to rs117178504 in particular are not described in the provided study text.
Reported associations
- DYNC2H1 locus: rs117178504 was identified at this locus through Quickdraws GWAS analysis of UK Biobank data (n approximately 405,000, covering 79 quantitative and 50 binary traits); the specific trait or traits driving this association, along with p-values and effect sizes, are not stated in the provided study excerpt.
Evidence quality
The identifying study used approximately 405,088 UK Biobank samples, a large cohort supporting robust statistical power for common variant detection. The Quickdraws method detected substantially more associations than REGENIE and FastGWA across both quantitative and binary traits, and the authors note that gains in replicated signals were also observed in Biobank Japan and FinnGen cohorts at the aggregate level. However, the provided study text does not report a p-value, odds ratio, beta coefficient, or replication status specific to rs117178504. No independent replication data for this particular variant in external cohorts is described in the excerpt. The source study has no PMID in the available metadata, limiting direct citation. Evidence quality for rs117178504 specifically cannot be fully assessed from the available text, and all findings regarding this variant should be considered preliminary until further characterization is published.
Lifestyle considerations
No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs117178504?
rs117178504 is a single nucleotide polymorphism - a common type of DNA variation at a single position in the genome - located at the DYNC2H1 locus. It was identified in a large genome-wide association study of UK Biobank participants.
What traits is rs117178504 linked to?
The specific trait associations for rs117178504 are not described in the currently available study data. The variant was found through a GWAS that analyzed 79 quantitative traits and 50 binary disease traits in roughly 405,000 UK Biobank participants.
How was rs117178504 discovered?
It was identified using Quickdraws, a genome-wide association method that combines a spike-and-slab statistical prior with stochastic variational inference and GPU acceleration to detect more genetic associations than previous tools, applied to approximately 405,000 UK Biobank participants.
Is rs117178504 well studied?
Current published data on rs117178504 is limited to its identification through the Quickdraws UK Biobank analysis. No replication study specific to this variant or detailed effect size data are available in the provided literature, so findings should be treated as preliminary.
What is the DYNC2H1 gene?
The available study does not describe the function of DYNC2H1 beyond identifying rs117178504 as a variant at this locus. Detailed information about the gene's biological role is not reported in the provided study text.