rs11999245 (COL5A1): Variant Research Overview

Key takeaways

• rs11999245 is a genetic variant located in or near the COL5A1 gene region.
• The only study provided for this entry is a GWAS methods paper that does not report specific results for this variant in its available excerpts.
• That study applied a new GWAS algorithm called Quickdraws to approximately 405,088 UK Biobank participants, covering 79 quantitative and 50 binary traits.
• No effect sizes, p-values, or trait-level findings for rs11999245 are available from the provided research.
• No lifestyle considerations are on file for this variant.

What the research says The only study provided for this entry is a methods paper introducing Quickdraws, a GWAS (genome-wide association study) algorithm that uses a spike-and-slab prior and stochastic variational inference to improve association power while remaining computationally efficient. Quickdraws was applied to 79 quantitative and 50 binary traits across approximately 405,088 UK Biobank participants, identifying 4.97% more associations than an existing method called REGENIE for quantitative traits. The available text excerpts from this paper do not describe specific findings for rs11999245 or the COL5A1 locus.

Reported associations

• No associations reported: The provided study does not describe specific trait associations for rs11999245 in its available text excerpts.

Evidence quality The sole study provided for this entry has no PMID listed in its metadata. It is a GWAS methodology paper rather than a variant-specific association report, applied to a large sample (n = approximately 405,088 UK Biobank participants). The available excerpts do not include variant-level results for rs11999245, and no replication data, effect sizes, or p-values for this locus are derivable from the supplied material. Evidence for this variant should be considered insufficient for summary based on the provided sources alone.

Lifestyle considerations No lifestyle considerations on file for this variant.