rs75575209

This variant is located in the VRK2 gene.

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GWAS Catalog Trait Associations (1)

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

schizophrenia

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 1.11
p 8.0e-9
N 122,624
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 1.11
p 1.0e-8
N 151,161
Large GWAS
Other
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 1.11
p 1.0e-8
N 108,341
Large GWAS
multi-ancestry
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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 VRK2

This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tumor cell growth. Variants in this gene have been associated with schizophrenia. Alternative splicing results in multiple transcript variants that differ in their subcellular localization and biological activity. [provided by RefSeq, Jan 2014]

View all VRK2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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