rs592039
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
EH domain-containing protein 4 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 0.23
p 6.0e-66
N 10,708
Large GWAS
European
immature platelet count
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele A
OR 0.12
p 9.0e-48
N 36,618
Large GWAS
European
platelet quantity
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele A
OR 0.11
p 6.0e-36
N 29,658
Large GWAS
European
normal mucosa of esophagus-specific gene 1 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 0.16
p 9.0e-32
N 10,708
Large GWAS
European
platelet volume
Yang Z et al. “Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.” Blood 143(15):1528-1538 (2024)
Allele G
OR 0.15
p 1.0e-17
N 71,605
Large GWAS
East Asian
platelet count
Burley K et al. “PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry.” Research and Practice in Thrombosis and Haemostasis 7(4):100175 (2023)
Allele G
OR 0.11
p 5.0e-11
N 20,218
Large GWAS
South 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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