rs757317
This is a intron variant variant in the CRTC1 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.
diaphragmatic hernia
Campbell M et al. “Identification of 14 novel susceptibility loci for diaphragmatic hernia development and their biological and clinical implications: results from the UK Biobank.” Surgical Endoscopy 36(10):7647-7651 (2022)
Allele C
OR —
p 2.0e-8
N 275,546
Major Consortium StudyLarge GWAS
About CRTC1
Enables cAMP response element binding protein binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in cytosol; nuclear body; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all CRTC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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