rs1052501

This is a variant in the ULK4 gene that changes a alanine to an threonine.

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GWAS Catalog Trait Associations (1)

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

multiple myeloma

Duran-Lozano L et al. “Germline variants at SOHLH2 influence multiple myeloma risk.” Blood Cancer Journal 11(4):76 (2021)

Allele G

OR 1.20

p 4.0e-9

N 350,263

Large GWAS

European

Broderick P et al. “Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk.” Nature Genetics 44(1):58-61 (2011)

Allele G

OR 1.32

p 2.0e-8

N 7,578

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

2 submitters2 publications

not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Developmental Dysplasia of the Hip: Linkage Mapping and Whole Exome Sequencing Identify a Shared Variant in CX 3 CR 1 in All Affected Members of a Large Multigeneration Family

Case reportN=72George J. Feldman et al.(2013)· Journal of Bone and Mineral Research

A 72-member, four-generation family with developmental dysplasia of the hip (DDH) was studied using genomewide linkage analysis and whole exome sequencing. A 2.61 Mb candidate region on chromosome 3p (38.7-41.31 Mb) was identified with LOD score 3.31. Whole exome sequencing of four severely affected family members revealed a shared nonsynonymous variant rs3732378 (C>T) in CX3CR1 causing a threonine-to-methionine substitution at position 280 in the transmembrane domain (predicted deleterious by PolyPhen-2 and SIFT), which was present in all affected individuals.

Traits studied:Developmental dysplasia of the hip (DDH)

PubMed DOI Metascience Observatory

About ULK4

This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]