rs2851447

This variant is located in the MPHOSPH9 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

“Biological insights from 108 schizophrenia-associated genetic loci.” Nature 511(7510):421-7 (2014)

Allele G

OR 1.09

p 2.0e-14

N 83,550

Large GWAS

multi-ancestry

type 2 diabetes mellitus

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele C

OR 0.04

p 8.0e-9

N 667,504

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

PubMed DOI Metascience Observatory

About MPHOSPH9

Involved in negative regulation of cilium assembly. Located in Golgi apparatus; centriole; and centrosome. Implicated in multiple sclerosis. [provided by Alliance of Genome Resources, Jul 2025]