rs8042374

This is a intron variant variant in the CHRNA3 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 A
OR 1.09
p 2.0e-13
N 83,550
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 A
OR 1.09
p 1.0e-12
N 151,161
Large GWAS
Other
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ClinVar annotation

Benign★☆☆☆
1 submitter1 publication
View on ClinVar →
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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 CHRNA3

This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

View all CHRNA3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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