rs67852477

This variant is located in the SRGN gene.

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GWAS Catalog Trait Associations (7)

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

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 1.05
p 3.0e-67
N 10,708
Large GWAS
European

growth/differentiation factor 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 G
OR 0.26
p 4.0e-29
N 47,745
Large GWAS
European

level of amyloid beta precursor like 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 G
OR 0.25
p 2.0e-18
N 47,745
Large GWAS
European

tartrate-resistant acid phosphatase type 5 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.21
p 7.0e-18
N 47,745
Large GWAS
European

bone morphogenetic protein 10 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.21
p 1.0e-16
N 47,745
Large GWAS
European

asporin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.19
p 6.0e-12
N 47,745
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters2 publications
View on ClinVar →

About SRGN

This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. Two transcript variants, only one of them protein-coding, have been found for this gene. [provided by RefSeq, Jul 2010]

View all SRGN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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