rs200050752

This is a protein-altering variant in the ATAD3B gene.

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GWAS Catalog Trait Associations (1)

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

heart rate variability measurement, response to antipsychotic drug

Lu Z et al. “ATAD3B and SKIL polymorphisms associated with antipsychotic-induced QTc interval change in patients with schizophrenia: a genome-wide association study.” Translational Psychiatry 12(1):56 (2022)

Allele T

OR 36.02

p 4.0e-8

N 2,040

Large GWAS

East Asian

About ATAD3B

The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and the encoded protein negatively regulates that interaction. This gene is expressed almost exclusively in pluripotent embryonic stem cells and some cancer cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

View all ATAD3B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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