rs61747728

This is a variant in the NPHS2 gene that changes a arginine to an glutamine.

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GWAS Catalog Trait Associations (87)

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

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 0.19
p 2.0e-43
N 47,745
Large GWAS
European

interleukin-10 receptor subunit beta 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 0.17
p 3.0e-42
N 47,745
Large GWAS
European

tumor necrosis factor receptor superfamily member 3 amount

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 0.17
p 4.0e-37
N 47,745
Large GWAS
European

level of butyrophilin subfamily 2 member A1 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 0.07
p 1.0e-33
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 0.16
p 2.0e-31
N 47,745
Large GWAS
European

ephrin type-B receptor 6 amount

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 0.17
p 3.0e-31
N 47,745
Large GWAS
European

tgf-beta receptor type-2 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 0.15
p 3.0e-31
N 47,745
Large GWAS
European
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ClinVar annotation

Pathogenic★☆☆☆
29 submitters56 publications

Focal segmental glomerulosclerosis (FSGS); Inborn genetic diseases; NPHS2-related disorder; Nephrotic syndrome; Nephrotic syndrome, type 2 (NPHS2); Nephrotic syndrome, type 2, susceptibility to; Proteinuria; not specified

View on ClinVar →

About NPHS2

This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

View all NPHS2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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