rs183211

This variant is located in the NSF gene.

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GWAS Catalog Trait Associations (2)

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

malignant epithelial tumor of ovary

Kuchenbaecker KB et al. “Identification of six new susceptibility loci for invasive epithelial ovarian cancer.” Nature Genetics 47(2):164-71 (2015)

Allele A

OR 1.11

p 2.0e-13

N 13,491

Large GWAS

European

ovarian carcinoma

Couch FJ et al. “Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.” Plos Genetics 9(3):e1003212 (2013)

Allele A

OR 1.25

p 3.0e-8

N 2,727

Large GWAS

European

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Research that mentions this SNP (1)

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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

PubMed DOI Metascience 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]