rs4695846

This is a intron variant variant in the HAND2-AS1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

facial morphology trait

White JD et al. “Insights into the genetic architecture of the human face.” Nature Genetics 53(1):45-53 (2021)

Allele A

OR —

p 2.0e-19

N 3,566

Large GWAS

European

About HAND2-AS1

Predicted to be involved in positive regulation of gene expression. Predicted to act upstream of or within with a positive effect on cardiac right ventricle morphogenesis. Predicted to act upstream of or within transcription elongation by RNA polymerase II. Predicted to be located in chromatin; cytoplasm; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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