rs2148299

GWAS Catalog Trait Associations (5)

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

cytochrome c oxidase subunit 6C measurement

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.23
p 3.0e-55
N 10,708
Large GWAS
European

junctophilin-1 measurement

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.15
p 1.0e-22
N 10,708
Large GWAS
European

nidogen-1 measurement

Allele T
OR 0.25
p 6.0e-17
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

torsin-1A-interacting protein 1 measurement

Sun BB et al. Genomic atlas of the human plasma proteome. Nature 558(7708):73-79 (2018)
Allele G
OR 0.21
p 6.0e-15
N 3,301
Large GWAS
European

prothrombin time measurement

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.05
p 2.0e-36
N 240,571
Major Consortium StudyLarge GWAS
multi-ancestry

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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