rs12075

This is a variant in the ACKR1 gene that changes a glycine to an aspartate.

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GWAS Catalog Trait Associations (28)

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

C-C motif chemokine 13 level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.19

p 2.0e-300

N 47,745

Large GWAS

European

C-C motif chemokine 8 level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.17

p 3.0e-293

N 47,745

Large GWAS

European

C-C motif chemokine 26 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.18

p 4.0e-217

N 47,745

Large GWAS

European

C-C motif chemokine 2 level

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)

Allele A

OR 0.49

p 3.0e-168

N 5,365

Large GWAS

European

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)

Allele A

OR —

β 0.078

p 2.0e-22

N 21,758

Large GWAS

European

Sliz E et al. “Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in Finns.” Journal of Medical Genetics 56(9):607-616 (2019)

Allele A

OR 0.13

p 2.0e-24

N 13,577

Large GWAS

European

Wang Y et al. “Genome-wide association study identifies 16 genomic regions associated with circulating cytokines at birth.” Plos Genetics 16(11):e1009163 (2020)

Allele A

OR 0.12

p 1.0e-134

N 8,318

Large GWAS

European

Ahola-Olli AV et al. “Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.” American Journal of Human Genetics 100(1):40-50 (2017)

Allele A

OR 0.22

p 1.0e-44

N 8,293

Large GWAS

European

Naitza S et al. “A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.” Plos Genetics 8(1):e1002480 (2012)

Allele A

OR —

p 4.0e-51

N 4,694

Large GWAS

European

Jiang MZ et al. “Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium.” Human Molecular Genetics 33(16):1429-1441 (2024)

Allele A

OR 0.23

p 7.0e-149

N 3,125

Major Consortium StudyLarge GWAS

European

Comuzzie AG et al. “Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.” Plos One 7(12):e51954 (2012)

Allele A

OR 0.10

p 1.0e-21

N 1,078

Large GWAS

Hispanic or Latin American

Voruganti VS et al. “Genome-wide association replicates the association of Duffy antigen receptor for chemokines (DARC) polymorphisms with serum monocyte chemoattractant protein-1 (MCP-1) levels in Hispanic children.” Cytokine 60(3):634-8 (2012)

Allele A

OR —

p 1.0e-21

N 815

Small GWAS

Hispanic or Latin American

CCL11 measurement

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)

Allele G

OR 0.49

p 3.0e-166

N 5,364

Large GWAS

European

interleukin-8 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.12

p 8.0e-103

N 47,745

Large GWAS

European

C-X-C motif chemokine 6 level

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)

Allele G

OR 0.38

p 3.0e-102

N 5,354

Large GWAS

European

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.07

p 1.0e-42

N 47,745

Large GWAS

European

growth-regulated alpha protein measurement

Allele G

OR 0.38

p 1.0e-55

N 3,505

Large GWAS

European

monocyte count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele A

OR 0.03

p 2.0e-46

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 A

OR 0.02

p 6.0e-22

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 A

OR 0.03

p 5.0e-43

N 408,112

Large GWAS

European

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.02

p 1.0e-25

N 394,642

Large 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 A

OR —

p 2.0e-10

N 234,690

Large GWAS

European

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele A

OR 0.03

p 2.0e-20

N 170,721

Large GWAS

European

basophil count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele A

OR 0.03

p 1.0e-42

N 408,112

Large GWAS

European

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele A

OR —

p 1.0e-39

N 577,663

Large 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 A

OR 0.01

p 3.0e-13

N 441,764

Large GWAS

multi-ancestry

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 A

OR —

p 2.0e-11

N 234,678

Large GWAS

European

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele A

OR 0.03

p 9.0e-23

N 171,846

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

4 submitters6 publications

ACKR1-related disorder; DUFFY BLOOD GROUP SYSTEM, FYA/FYB POLYMORPHISM; not specified

View on ClinVar →

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Research that mentions this SNP (2)

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The dual and opposite role of the TM6SF2‐rs58542926 variant in protecting against cardiovascular disease and conferring risk for nonalcoholic fatty liver: A meta‐analysis

AssociationN=13,577Carlos J. Pirola et al.(2015)· Hepatology

This doctoral thesis comprises three studies on metabolic syndrome-related traits. Study III is a GWAS identifying seven novel loci associating with circulating inflammatory markers (cytokines and adhesion molecules) in 5,284 Finnish individuals from NFBC1966, with meta-analysis including three additional Finnish populations totaling 13,577 participants. Studies I and II use Mendelian randomization and association analysis to examine metabolic effects of lipid-lowering therapies and NAFLD risk alleles (PNPLA3 rs738409-G, TM6SF2 rs58542926-T, GCKR rs780094-T/rs1260326-T, LYPLAL1 rs12137855-C, and NCAN rs2228603-T).

Traits studied:Cardiovascular diseaseCirculating inflammatory markersCytokines and cell adhesion moleculesIL1-betaIL1-receptor antagonistIL17IL4IL6IL8IP10Lipid metabolismMCP1Metabolic syndromeNon-alcoholic fatty liver disease (NAFLD)Soluble E-selectinSoluble ICAM-1Soluble VCAM-1TNF-alphaType 2 diabetes riskVEGF

PubMed DOI Metascience Observatory

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Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network

AssociationN=13,923Crosslin DR et al.(2012)· Human Genetics

This GWAS of 13,923 subjects identified ancestry-specific genetic variants associated with white blood cell count. In African ancestry individuals, the DARC gene variants rs2814778 (β=1.35, p=6.71e-55) and rs12075 (β=1.27, p=4.92e-24) showed genome-wide significant associations. In European ancestry individuals, variants in the 17q21.1 region tagging GSDMA, PSMD3, and MED24 were associated with WBC (rs3859192: β=0.14, p=1.75e-12; rs4065321: β=0.14, p=3.47e-11), with evidence of pleiotropy with asthma-associated variants.

Traits studied:Basophil countEosinophil countLymphocyte countMonocyte countNeutrophil countWhite blood cell count

PubMed DOI Metascience Observatory

About ACKR1

The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

rs12075

GWAS Catalog Trait Associations (28)

C-C motif chemokine 13 level

C-C motif chemokine 8 level

C-C motif chemokine 26 measurement

C-C motif chemokine 2 level

CCL11 measurement

interleukin-8 measurement

C-X-C motif chemokine 6 level

growth-regulated alpha protein measurement

monocyte count

basophil count

ClinVar annotation

Research that mentions this SNP (2)

About ACKR1

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