rs12037987

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GWAS Catalog Trait Associations (3)

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

cryptic phenotype measurement

Blair DR et al. “Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis.” Nature Communications 13(1):3675 (2022)
Allele C
OR 0.01
p 6.0e-11
N 308,095
Large GWAS
European
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Research that mentions this SNP (1)

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Genetic variation contributes to gene expression response in ischemic stroke: an eQTL study
AssociationN=275Hajar Amini et al.(2020)· Annals of Clinical and Translational Neurology

This eQTL study examined 137 ischemic stroke patients and 138 controls to identify SNP-gene associations affecting blood gene expression. The analysis identified 4 significant cis-eQTLs and 70 trans-eQTLs with genotype-diagnosis interactions. Key findings include rs56348411 (NRGN, p=2.10×10⁻⁸), rs78046578 (CXCL10), rs975903 (SMAD4), and rs62299879 (CD38) affecting inflammatory response genes, plus rs148791848 as a strong trans-eQTL for ANOS1 involved in neural cell adhesion.

Traits studied:Axonal migrationGene expression response to ischemic strokeInflammatory response to strokeIschemic strokeNeural cell adhesion
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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