rs111535588

This variant is located in the SCN2A gene.

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GWAS Catalog Trait Associations (1)

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

cognitive decline measurement

Sherva R et al. “Genome-wide association study of rate of cognitive decline in Alzheimer's disease patients identifies novel genes and pathways.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 16(8):1134-1145 (2020)
Allele G
OR 0.83
p 5.0e-8
N 3,946
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

About SCN2A

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

View all SCN2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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