rs12123397
This variant is located in the NPHS2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
torsin-1A-interacting 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 C
OR 0.27
p 9.0e-16
N 47,745
Large GWAS
European
▶ClinVar annotation
Conflicting Classifications
8 submitters4 publicationsnot specified; Nephrotic syndrome, type 2; not provided; Steroid-resistant nephrotic syndrome; Focal segmental glomerulosclerosis; NPHS2-related disorder
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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