rs3742321

This is a protein-altering variant in the STARD13 gene.

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GWAS Catalog Trait Associations (2)

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

hemoglobin measurement

Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele C
OR —
β 0.017
p 6.0e-11
N 684,122
Large GWAS
European

brain aneurysm

Bakker MK et al. “Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors.” Nature Genetics 52(12):1303-1313 (2020)
Allele T
OR 0.15
p 4.0e-11
N 79,429
Large GWAS
European

About STARD13

This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

View all STARD13 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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