rs10043984

This is a intron variant variant in the KDM3B gene.

▶

GWAS Catalog Trait Associations (3)

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

bipolar I disorder

Mullins N et al. “Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.” Nature Genetics 53(6):817-829 (2021)
Allele C
OR 0.92
p 1.0e-9
N 475,038
Large GWAS
European

bipolar disorder

Mullins N et al. “Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.” Nature Genetics 53(6):817-829 (2021)
Allele C
OR 0.94
p 4.0e-8
N 413,466
Large GWAS
European

schizophrenia

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 0.07
p 4.0e-8
N 77,096
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
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 KDM3B

Predicted to enable chromatin DNA binding activity; histone H3K9 demethylase activity; and transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleoplasm. Biomarker of acute lymphoblastic leukemia; breast cancer; colorectal cancer; and lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

View all KDM3B variants →

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…