rs199533

This is a synonymous variant in the NSF gene — it does not change the protein's amino acid sequence.

▶

GWAS Catalog Trait Associations (6)

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

Parkinson disease

Simón-Sánchez J et al. “Genome-wide association study reveals genetic risk underlying Parkinson's disease.” Nature Genetics 41(12):1308-12 (2009)
Allele C
OR 1.28
p 1.0e-14
N 5,691
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 1.0e-12
N 95,952
Meta-analysisLarge GWAS
multi-ancestry

systemic lupus erythematosus

Khunsriraksakul C et al. “Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus.” Nature Communications 14(1):668 (2023)
Allele G
OR 0.07
p 1.0e-8
N 718,496
Large GWAS
multi-ancestry

breast carcinoma

Rashkin SR et al. “Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.” Nature Communications 11(1):4423 (2020)
Allele G
OR 1.08
p 5.0e-8
N 428,231
Large GWAS
European
▶

Research that mentions this SNP (2)

▶
Ovarian cancer susceptibility alleles and risk of ovarian cancer inBRCA1andBRCA2mutation carriers
AssociationN=14,351Ramus SJ et al.(2012)· Human Mutation

This multi-stage genome-wide association study in 11,705 BRCA1 mutation carriers identified three novel cancer risk-modifying loci: rs2290854 at 1q32 associated with breast cancer (HR=1.14), and rs17631303 (HR=1.27) and rs4691139 (HR=1.20) at 17q21.31 and 4q32.3 respectively associated with ovarian cancer. The 4q32.3 locus showed BRCA1-specific associations. These findings enable improved absolute risk estimation for BRCA1 carriers, with estimated breast cancer lifetime risks ranging from 28-50% for the lowest-risk 5% to 81-100% for the highest-risk 5%.

Traits studied:Breast cancerOvarian cancer
PubMedDOIMetascience Observatory
▶
Replication of MAPT and SNCA, but not PARK16‐18, as susceptibility genes for Parkinson's disease
AssociationN=2,606Ignacio F. Mata et al.(2011)· Movement Disorders

This replication study of 1,445 Parkinson's disease patients and 1,161 controls from Northern Spain confirms MAPT (rs1800547, p=3.1×10⁻⁴, OR=0.79) and SNCA (rs356219, p=5.5×10⁻⁴, OR=1.23) as PD susceptibility genes, but fails to replicate PARK16, PARK17, and PARK18 loci (p values 0.09-0.88). The findings suggest that PARK16-18 may harbor population-specific effects or require larger sample sizes for detection in European-derived populations.

Traits studied:Parkinson's disease
PubMedDOIMetascience Observatory

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…