rs1075650

This is a coding sequence variant variant in the IER5L gene.

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GWAS Catalog Trait Associations (1)

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

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Research that mentions this SNP (1)

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A Functional SNP Catalog of Overlapping miRNA-Binding Sites in Genes Implicated in Prion Disease and Other Neurodegenerative Disorders
FunctionalReuben Saba et al.(2014)· Human Mutation

This functional study identifies 119 SNPs in miRNA-binding sites within 3'UTRs of 53 genes implicated in prion disease and other neurodegenerative disorders. The paper uses bioinformatics to predict SNPs affecting miRNA binding and experimentally validates key interactions, particularly rs9291296 in GABRα4 which strengthens miR-26a-5p binding (ΔΔG = 2.3 kcal/mol). The study finds that GABA receptor subunits are notably enriched for miRNA-targeting SNPs.

Traits studied:Alzheimer's diseaseAmyotrophic Lateral SclerosisAutismEpilepsyHuntington's diseaseMood disordersNeurodegenerationNeurodevelopmental disordersParkinson's diseasePrion diseaseSchizophreniaTaupathiesTemporal lobe epilepsy
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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