rs150665764

This is a synonymous variant in the ADGRE5 gene — it does not change the protein's amino acid sequence.

GWAS Catalog Trait Associations (5)

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

leukocyte quantity

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.07
p 7.0e-17
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 C
OR 0.08
p 7.0e-16
N 381,267
Major Consortium StudyLarge GWAS
European

monocyte count

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 G
OR 0.09
p 6.0e-14
N 259,608
Major Consortium StudyLarge GWAS
European
Allele G
OR 0.05
p 2.0e-11
N 521,594
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 G
OR 0.06
p 1.0e-11
N 408,112
Large GWAS
European

lymphocyte count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.08
p 1.0e-18
N 408,112
Large GWAS
European
Allele G
OR 0.06
p 4.0e-15
N 394,642
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 G
OR 0.07
p 1.0e-16
N 364,045
Major Consortium StudyLarge GWAS
multi-ancestry

myeloid leukocyte count

Allele C
OR
p 1.0e-16
N 746,667
Large GWAS
multi-ancestry

platelet count

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 G
OR 0.06
p 1.0e-13
N 583,459
Major Consortium StudyLarge GWAS
multi-ancestry
Allele G
OR 0.05
p 5.0e-12
N 542,827
Large GWAS
European
Allele G
OR 0.05
p 7.0e-12
N 394,642
Large GWAS
European

About ADGRE5

This gene encodes a member of the EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large extracellular subunit and seven-span transmembrane subunit, which associate at the cell surface as a receptor complex. The encoded protein may play a role in cell adhesion as well as leukocyte recruitment, activation and migration, and contains multiple extracellular EGF-like repeats which mediate binding to chondroitin sulfate and the cell surface complement regulatory protein CD55. Expression of this gene may play a role in the progression of several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found in a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011]

View all ADGRE5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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