rs4794202
This is a upstream gene variant variant in the SP6 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.
pulmonary embolism
Zhang Z et al. “Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population.” Bmc Medicine 21(1):153 (2023)
Allele T
OR 0.22
p 5.0e-12
N 9,475
Large GWAS
East Asian
About SP6
SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]
View all SP6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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