rs11661654

This is a intron variant variant in the SETBP1 gene.

▶

GWAS Catalog Trait Associations (2)

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

QRS duration

Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)
Allele T
OR 0.05
p 4.0e-72
N 60,343
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian
van Setten J et al. “Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.” European Journal of Human Genetics : Ejhg 27(6):952-962 (2019)
Allele T
OR 0.60
p 2.0e-11
N 25,509
Meta-analysisLarge GWAS
multi-ancestry

Complete right bundle branch block

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 C
OR 0.15
p 9.0e-19
N 441,537
Major Consortium StudyLarge GWAS
European

About SETBP1

This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

View all SETBP1 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…