rs34803179
This is a intron variant variant in the ACTR3 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.
corneal endothelial cell attribute
Ivarsdottir EV et al. “Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.” Nature Communications 10(1):1284 (2019)
Allele G
OR 0.18
p 4.0e-9
N 6,125
Large GWAS
European
About ACTR3
The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
View all ACTR3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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