rs116956554
This is a intron variant variant in the NSF gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Thyroid stimulating hormone level
Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)
Allele A
OR 0.04
p 1.0e-52
N 482,873
Large GWAS
European
Figuerêdo J et al. “Uncovering the shared genetic components of thyroid disorders and reproductive health.” European Journal of Endocrinology 191(2):211-222 (2024)
Allele A
OR 0.04
p 2.0e-13
N 164,818
Large GWAS
European
Zhou W et al. “GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.” Nature Communications 11(1):3981 (2020)
Allele A
OR 0.05
p 3.0e-12
N 119,715
Large GWAS
European
brain age measurement
Zhao X et al. “Regulatory Genomic Circuitry of Brain Age by Integrative Functional Genomic Analyses.” Genomics, Proteomics & Bioinformatics 23(5) (2025)
Allele A
OR 0.21
p 3.0e-12
N 35,702
Large GWAS
European
forced expiratory volume, 25-hydroxyvitamin D3 measurement
Seo J et al. “Exploiting meta-analysis of genome-wide interaction with serum 25-hydroxyvitamin D to identify novel genetic loci associated with pulmonary function.” The American Journal of Clinical Nutrition 119(5):1227-1237 (2024)
Allele G
OR —
p 5.0e-12
N 95,952
Meta-analysisLarge GWAS
multi-ancestry
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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