rs884209

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GWAS Catalog Trait Associations (1)

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

chitinase-3-like protein 1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR —
β 1.010
p —
N 3,301
Large GWAS
European
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Research that mentions this SNP (1)

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Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot
AssociationN=2,768Katelyn S. Weymouth et al.(2011)· American Journal of Medical Genetics Part A

Association study examining 15 muscle contractile genes in isolated clubfoot. In a discovery cohort of 581 multiplex and simplex families (224 multiplex, 357 simplex) enriched for non-Hispanic white and Hispanic families, positive associations (p<0.05) were found with SNPs in 12 genes. Key findings include maternal genotypic effects for TNNC2/rs383112 (OR 1.38, 95% CI 1.13-1.72) and inherited protective effects for TNNC2/rs4629 (RR 0.74) and TNNC2/rs383112 (RR 0.77). TPM1 associations were replicated across discovery and validation datasets (rs4075583 p=0.01, rs1972041 p=0.000074, rs12148828 p=0.04). Multiple gene interactions identified between muscle contractile genes.

Traits studied:Distal arthrogryposisIsolated clubfoot
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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