rs2388334

▶

GWAS Catalog Trait Associations (8)

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

intelligence

Davies G et al. “Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.” Nature Communications 9(1):2098 (2018)
Allele A
OR 11.47
p 2.0e-30
N 300,486
Large GWAS
European

fat pad mass

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.02
p 2.0e-20
N 394,642
Large GWAS
European

autism spectrum disorder, self reported educational attainment

Grove J et al. “Identification of common genetic risk variants for autism spectrum disorder.” Nature Genetics 51(3):431-444 (2019)
Allele A
OR 0.07
p 3.0e-12
N 375,267
Large GWAS
European

bipolar disorder

Li HJ et al. “Novel Risk Loci Associated With Genetic Risk for Bipolar Disorder Among Han Chinese Individuals: A Genome-Wide Association Study and Meta-analysis.” Jama Psychiatry 78(3):320-330 (2021)
Allele A
OR 0.94
p 4.0e-9
N 58,182
Meta-analysisLarge GWAS
multi-ancestry
Stahl EA et al. “Genome-wide association study identifies 30 loci associated with bipolar disorder.” Nature Genetics 51(5):793-803 (2019)
Allele A
OR 1.07
p 4.0e-9
N 51,710
Large GWAS
European

body fat percentage

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.01
p 1.0e-21
N 394,642
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
Genetic analysis of SNPs in CACNA1C and ANK3 gene with schizophrenia: A comprehensive meta‐analysis
AssociationN=1,237Fayi Nie et al.(2015)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

A case-control association study of 1,237 Pakistani subjects (479 with major depression, 222 with bipolar disorder, 146 with schizophrenia, 390 controls) examined 11 dopaminergic system gene variants. Significant risk associations were found for rs1006737 and rs2238056 (CACNA1c) with bipolar disorder (OR=1.14-1.15), while rs10033951 (DRD5), rs2388334 (POU3F2), and the DRD4 120bp VNTR showed protective effects across disorders (OR=0.81-0.86).

Traits studied:Bipolar DisorderMajor DepressionSchizophrenia
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…