rs117727884 (SPMIP7 - IKZF1): Variant Overview

Key takeaways

• rs117727884 is located in the SPMIP7 - IKZF1 genomic region
• The studies currently available do not report specific trait associations for this variant
• Large-scale GWAS methods can now analyze 13 million variants across 400,000+ participants simultaneously
• More targeted research is needed before any associations for this locus can be confirmed

What the research says The studies available for this entry include a large-scale GWAS methods paper and a color vision genetics study, neither of which reports findings specific to rs117727884. The GWAS methods paper applied the Quickdraws algorithm to 13.3 million variants in 405,088 UK Biobank participants across 79 quantitative and 50 binary traits, finding 4.97% more quantitative-trait associations than the REGENIE method and 22.71% more than FastGWA. A separate GWAS of multifactorial color vision defects in 520 individuals from Silk Road isolated communities identified candidate genes in unrelated genomic regions but did not implicate this locus.

Reported associations

• No variant-specific associations on file: Neither of the provided studies reports association findings for rs117727884. The large-scale UK Biobank analysis examined 13.3 million variants across 79 quantitative and 50 binary traits but does not detail results for this SNP in the available text. The color vision GWAS in Silk Road isolated communities does not address this locus.

Evidence quality No direct evidence for rs117727884 is available from the provided studies. The UK Biobank GWAS paper covers 405,088 participants and 13.3 million variants but does not report variant-level results for this locus in the available excerpt. The color vision study involves 520 participants from Silk Road isolated communities, a sample size that limits statistical power for detecting associations outside its targeted phenotype. No p-values, effect sizes, or replication data for this SNP can be extracted from these sources. The evidence base is insufficient to support any specific association claims for this variant.

Lifestyle considerations No lifestyle considerations on file for this variant.