rs1531070
This is a intron variant variant in the MAML3 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.
congenital heart malformation
Hu Z et al. “A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.” Nature Genetics 45(7):818-21 (2013)
Allele A
OR 1.40
p 5.0e-12
N 2,191
Large GWAS
East Asian
About MAML3
Enables transcription coactivator activity. Involved in Notch signaling pathway and positive regulation of transcription by RNA polymerase II. Located in nuclear speck. [provided by Alliance of Genome Resources, Jul 2025]
View all MAML3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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