rs12668848

This variant is located in the MAD1L1 gene.

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GWAS Catalog Trait Associations (3)

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

schizophrenia

Li Z et al. “Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.” Nature Genetics 49(11):1576-1583 (2017)
Allele G
OR 1.08
p 4.0e-17
N 108,341
Large GWAS
multi-ancestry
Goes FS et al. “Genome-wide association study of schizophrenia in Ashkenazi Jews.” American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics 168(8):649-59 (2015)
Allele G
OR 1.09
p 1.0e-13
N 151,161
Large GWAS
Other
Ikeda M et al. “Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.” Schizophrenia Bulletin 45(4):824-834 (2019)
Allele G
OR 1.08
p 2.0e-15
N 122,624
Large GWAS
multi-ancestry

bipolar disorder

Mullins N et al. “Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.” Nature Genetics 53(6):817-829 (2021)
Allele G
OR 1.06
p 2.0e-9
N 413,466
Large GWAS
European

About MAD1L1

MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

View all MAD1L1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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