rs2099684

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (5)

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

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele G
OR 0.39
p 2.0e-84
N 5,363
Large GWAS
European
Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele G
OR 0.41
p 6.0e-53
N 3,200
Large GWAS
European

indoleamine 2,3-dioxygenase 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 G
OR 0.04
p 1.0e-13
N 47,745
Large GWAS
European

Takayasu arteritis

Terao C et al. “Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis.” Proceedings of the National Academy of Sciences of the United States of America 115(51):13045-13050 (2018)
Allele C
OR 1.54
p 7.0e-12
N 2,569
Large GWAS
East Asian

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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