rs117775520

This is a missense variant variant.

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GWAS Catalog Trait Associations (7)

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

level of lymphocyte antigen 96 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 A
OR 0.17
p 2.0e-32
N 47,745
Large GWAS
European

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.43
p 2.0e-30
N 10,708
Large GWAS
European

level of neuronal-specific septin-3 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 A
OR 0.17
p 3.0e-30
N 47,745
Large GWAS
European

HLA class II histocompatibility antigen, DM alpha chain measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR —
β 0.670
p 3.0e-26
N 3,301
Large GWAS
European

immunoglobulin isotype switching attribute

Jonsson S et al. “Identification of sequence variants influencing immunoglobulin levels.” Nature Genetics 49(8):1182-1191 (2017)
Allele A
OR 0.29
p 7.0e-20
N 14,183
Large GWAS
European

immunoglobulin alpha fc receptor measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.08
p 1.0e-11
N 47,745
Large GWAS
European

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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