rs4849124

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

corneal endothelial cell attribute

Ivarsdottir EV et al. “Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.” Nature Communications 10(1):1284 (2019)
Allele A
OR 0.15
p 7.0e-14
N 6,125
Large GWAS
European
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Research that mentions this SNP (1)

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Fine-mapping the genetic basis of CRP regulation in African Americans: a Bayesian approach
AssociationN=594Benjamin Rhodes et al.(2008)· Human Genetics

Fine-mapping study of C-reactive protein (CRP) regulation in 594 African Americans using dense SNP genotyping and Bayesian model selection. Found rs3091244(T) allele as the key functional variant regulating CRP expression with additive effects (Bayes factor >100), explaining 5.20% of CRP variance with β=0.312 (95% CI 0.146-0.491). Secondary analysis supported a two-SNP model including rs12728740, which segregated with European-origin haplotypes. The study demonstrates that weaker linkage disequilibrium in African Americans resolved genetic ambiguity seen in European populations.

Traits studied:C-reactive protein levelsCardiovascular disease susceptibility
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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