rs549845

This variant is located in the PTPRF gene.

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GWAS Catalog Trait Associations (5)

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

attention deficit hyperactivity disorder

van der Laan CM et al. “Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes.” Nature Genetics 57(10):2427-2435 (2025)
Allele A
OR 0.03
p 3.0e-19
N 299,017
Meta-analysisLarge GWAS
European
Demontis D et al. “Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains.” Nature Genetics 55(2):198-208 (2023)
Allele A
OR 1.08
p 9.0e-15
N 225,534
Large GWAS
European

smoking behavior trait

Wootton RE et al. “Evidence for causal effects of lifetime smoking on risk for depression and schizophrenia: a Mendelian randomisation study.” Psychological Medicine 50(14):2435-2443 (2020)
Allele G
OR 0.02
p 8.0e-14
N 462,690
Large GWAS
European

household income

Hill WD et al. “Genome-wide analysis identifies molecular systems and 149 genetic loci associated with income.” Nature Communications 10(1):5741 (2019)
Allele A
OR 0.01
p 3.0e-11
N 505,541
Large GWAS
European, NR

intelligence

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.02
p 6.0e-11
N 254,641
Large GWAS
European

About PTPRF

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]

View all PTPRF variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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