rs2228467

This is a protein-altering variant in the ACKR2 gene.

GWAS Catalog Trait Associations (24)

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

monocyte count

Allele C
OR 0.16
p
N 521,594
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 C
OR 0.15
p 2.0e-211
N 444,975
Large GWAS
multi-ancestry
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.15
p 2.0e-218
N 408,112
Large GWAS
European
Allele C
OR 0.13
p 1.0e-271
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 C
OR 0.21
p 3.0e-217
N 259,608
Major Consortium StudyLarge GWAS
European
Kachuri L et al. Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia. American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele C
OR
p 2.0e-106
N 234,690
Large GWAS
European
Allele C
OR 0.17
p 7.0e-121
N 170,721
Large GWAS
European

C-C motif chemokine 17 amount

Allele C
OR 0.38
p 6.0e-261
N 47,745
Large GWAS
European
Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.56
p 7.0e-97
N 10,708
Large GWAS
European
Allele C
OR 0.41
p 2.0e-82
N 8,318
Large GWAS
European
Allele C
OR 0.57
p 5.0e-46
N 5,367
Large GWAS
European
Sun BB et al. Genomic atlas of the human plasma proteome. Nature 558(7708):73-79 (2018)
Allele C
OR 0.59
p 7.0e-34
N 3,301
Large GWAS
European
Allele C
OR 0.56
p 3.0e-27
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
Allele C
OR 0.55
p 4.0e-11
N 997
Small GWAS
multi-ancestry

eotaxin measurement

Allele C
OR 0.36
p 6.0e-241
N 47,745
Large GWAS
European
Allele C
OR 0.33
p 4.0e-49
N 14,734
Large GWAS
multi-ancestry
Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.40
p 1.0e-48
N 10,708
Large GWAS
European
Allele C
OR 0.42
p 2.0e-46
N 8,153
Large GWAS
European
Sun BB et al. Genomic atlas of the human plasma proteome. Nature 558(7708):73-79 (2018)
Allele C
OR 0.56
p 5.0e-30
N 3,301
Large GWAS
European
Allele C
OR 0.52
p 5.0e-24
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

monocyte percentage of leukocytes

Allele C
OR 0.13
p 1.0e-240
N 394,642
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 C
OR 0.14
p 4.0e-192
N 408,112
Large GWAS
European
Allele C
OR 0.16
p 1.0e-97
N 170,494
Large GWAS
European

C-C motif chemokine 7 level

Allele C
OR 0.28
p 2.0e-127
N 47,745
Large GWAS
European

C-C motif chemokine 24 measurement

Allele C
OR 0.16
p 6.0e-110
N 47,745
Large GWAS
European

lymphocyte:monocyte ratio

Kachuri L et al. Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia. American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele T
OR
p 1.0e-102
N 234,184
Large GWAS
European

granulocyte percentage of myeloid white cells

Allele C
OR 0.13
p 1.0e-65
N 169,545
Large GWAS
European

eosinophil count

Allele C
OR 0.06
p 9.0e-52
N 474,237
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 0.06
p 2.0e-18
N 447,598
Major Consortium StudyLarge GWAS
multi-ancestry
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.04
p 2.0e-31
N 442,919
Large GWAS
multi-ancestry
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.05
p 9.0e-32
N 408,112
Large GWAS
European
Allele C
OR 0.05
p 2.0e-36
N 394,642
Large GWAS
European
Allele C
OR 0.06
p 5.0e-14
N 365,954
Large GWAS
European
Allele C
OR 0.07
p 5.0e-21
N 172,275
Large GWAS
European

About ACKR2

This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. [provided by RefSeq, Jul 2008]

View all ACKR2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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