rs7893279

This is a intron variant variant in the CACNB2 gene.

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GWAS Catalog Trait Associations (2)

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

schizophrenia

Trubetskoy V et al. “Mapping genomic loci implicates genes and synaptic biology in schizophrenia.” Nature 604(7906):502-508 (2022)
Allele T
OR 1.11
p 1.0e-17
N 175,799
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 T
OR 1.12
p 6.0e-11
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 T
OR 1.12
p 1.0e-10
N 122,624
Large GWAS
multi-ancestry
Li Z et al. “Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.” Nature Genetics 49(11):1576-1583 (2017)
Allele T
OR 1.12
p 3.0e-13
N 108,341
Large GWAS
multi-ancestry
“Biological insights from 108 schizophrenia-associated genetic loci.” Nature 511(7510):421-7 (2014)
Allele T
OR 1.13
p 2.0e-12
N 83,550
Large GWAS
multi-ancestry
Yao X et al. “Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.” Translational Psychiatry 11(1):69 (2021)
Allele T
OR 0.11
p 1.0e-10
N 77,096
Large GWAS
European
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Research that mentions this SNP (1)

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Common variants in QPCT gene confer risk of schizophrenia in the Han Chinese population
MethodsRaja Amjad Waheed Khan et al.(2016)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This paper presents CalPen, a web-based tool for calculating penetrance (disease likelihood given a mutation) in complex genetic disorders. The authors validated CalPen against published penetrance calculations for schizophrenia-associated copy number variants (CNVs) and single nucleotide polymorphisms (SNPs). They analyzed 15 CNVs in 39,059 schizophrenia patients and 55,084 controls (average penetrance 7%, ranging from ~1.4% for 15q11.2 deletions to ~20% for 22q11.21 CNVs) and 145 SNPs in 45,405 patients and 122,761 controls (average penetrance 0.7%, with rs1801028 showing the highest at 1.6%).

Traits studied:Schizophrenia
PubMedDOIMetascience Observatory

About CACNB2

This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]

View all CACNB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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