rs7614498

This is a intron variant variant in the PBRM1 gene.

▶

GWAS Catalog Trait Associations (2)

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 A

OR 1.07

p 2.0e-9

N 475,038

Large GWAS

European

platelet count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.02

p 2.0e-15

N 582,835

Major Consortium StudyLarge GWAS

multi-ancestry

About PBRM1

This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012]

View all PBRM1 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

Loading comments…