rs1144593

This is a regulatory region variant variant in the ATXN7L2 gene.

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GWAS Catalog Trait Associations (3)

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

cognitive function measurement

Lee JJ et al. “Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.” Nature Genetics 50(8):1112-1121 (2018)

Allele A

OR 0.02

p 2.0e-13

N 257,841

Large GWAS

European

cognitive function measurement, self reported educational attainment

Demange PA et al. “Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction.” Nature Genetics 53(1):35-44 (2021)

Allele A

OR 0.05

p 3.0e-13

N 257,700

Large GWAS

European

intelligence

Savage JE et al. “Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.” Nature Genetics 50(7):912-919 (2018)

Allele A

OR 6.40

p 2.0e-10

N 269,867

Meta-analysisLarge GWAS

European

Hill WD et al. “A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.” Molecular Psychiatry 24(2):169-181 (2019)

Allele A

OR 0.02

p 3.0e-10

N 248,482

Large GWAS

European

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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