rs199805751
This variant is located in the NSF gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
neuroimaging measurement
Fu J et al. “Cross-ancestry genome-wide association studies of brain imaging phenotypes.” Nature Genetics 56(6):1110-1120 (2024)
Allele A
OR 0.12
p 2.0e-12
N 7,058
Large GWAS
East Asian
total cortical area measurement
Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele A
OR 0.09
p 3.0e-12
N 21,281
Major Consortium StudyLarge GWAS
European
About NSF
Enables PDZ domain binding activity and ionotropic glutamate receptor binding activity. Involved in intracellular protein transport; positive regulation of protein catabolic process; and positive regulation of receptor recycling. Located in Golgi apparatus; cytosol; and plasma membrane. Implicated in developmental and epileptic encephalopathy 96. [provided by Alliance of Genome Resources, Jul 2025]
View all NSF variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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