rs552411949
This variant is located in the SH2D6 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
keratoconus
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 C
OR 3.37
p 2.0e-11
N 573,071
Major Consortium StudyLarge GWAS
multi-ancestry
About SH2D6
Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway and intracellular signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all SH2D6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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