rs17464525

This variant is located in the AP4B1 gene.

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GWAS Catalog Trait Associations (2)

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

chromosome, telomeric region length

Burren OS et al. “Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.” Nature Genetics 56(9):1832-1840 (2024)
Allele G
OR 0.05
p 1.0e-69
N 438,351
Major Consortium StudyLarge GWAS
European
Liu WS et al. “Whole exome sequencing analyses reveal novel genes in telomere length and their biomedical implications.” Geroscience 46(5):5365-5385 (2024)
Allele G
OR 0.03
p 4.0e-29
N 327,790
Large GWAS
European

erythrocyte volume

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 4.0e-11
N 408,112
Large GWAS
European
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ClinVar annotation

Benign★★★☆
8 submitters2 publications

not specified; Hereditary spastic paraplegia 47; Inborn genetic diseases; not provided; Malignant lymphoma, large B-cell, diffuse; Uterine carcinosarcoma; Adrenocortical carcinoma, hereditary

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About AP4B1

This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

View all AP4B1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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