rs33950747

This variant is located in the NPHS1 gene.

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GWAS Catalog Trait Associations (10)

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

C-type lectin domain family 14 member A measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.12
p 6.0e-38
N 47,745
Large GWAS
European

thrombomodulin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.12
p 2.0e-33
N 47,745
Large GWAS
European

level of hypoxia up-regulated protein 1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.11
p 9.0e-31
N 47,745
Large GWAS
European

thiamin pyrophosphokinase 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.10
p 1.0e-21
N 47,745
Large GWAS
European

aggrecan core protein measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.08
p 2.0e-19
N 47,745
Large GWAS
European

SLIT and NTRK-like protein 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.08
p 7.0e-16
N 47,745
Large GWAS
European

spondin-1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.07
p 2.0e-14
N 47,745
Large GWAS
European

interferon gamma receptor 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.07
p 2.0e-12
N 47,745
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
14 submitters6 publications

not specified; Finnish congenital nephrotic syndrome; not provided; Congenital nephrotic syndrome; Atypical hemolytic-uremic syndrome

View on ClinVar →

About NPHS1

This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]

View all NPHS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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