rs34881325

This variant is located in the VLDLR gene.

GWAS Catalog Trait Associations (9)

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

hematocrit

Allele T
OR 0.02
p 5.0e-28
N 562,259
Large GWAS
European
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.02
p 7.0e-25
N 408,112
Large GWAS
European
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 T
OR 0.03
p 2.0e-20
N 407,836
Major Consortium StudyLarge GWAS
European

hemoglobin measurement

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.02
p 8.0e-26
N 408,112
Large GWAS
European
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 T
OR 0.02
p 2.0e-14
N 584,668
Major Consortium StudyLarge GWAS
multi-ancestry
Allele T
OR 0.02
p 4.0e-21
N 394,642
Large GWAS
European

high density lipoprotein cholesterol measurement

Allele T
OR 0.02
p 3.0e-23
N 394,642
Large GWAS
European

mean corpuscular hemoglobin concentration

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 0.03
p 1.0e-18
N 407,342
Major Consortium StudyLarge GWAS
European

monocyte count

Allele T
OR 0.02
p 4.0e-16
N 394,642
Large GWAS
European
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.02
p 6.0e-12
N 444,975
Large GWAS
multi-ancestry

glucose measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 5.0e-13
N 450,015
Large GWAS
multi-ancestry

erythrocyte count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.02
p 1.0e-12
N 408,112
Large GWAS
European

platelet count

Allele T
OR
p 4.0e-23
N 721,201
Large GWAS
multi-ancestry

vascular endothelial growth factor A level

Allele T
OR 0.12
p 3.0e-10
N 7,118
Large GWAS
European
Allele T
OR 0.15
p 1.0e-14
N 5,364
Large GWAS
European

ClinVar annotation

Benign★★★
3 submitters1 publication

Congenital cerebellar hypoplasia; Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1; not provided

View on ClinVar →

About VLDLR

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009]

View all VLDLR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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