rs2814778

This is a downstream gene variant variant in the ACKR1 gene.

▶

GWAS Catalog Trait Associations (27)

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

granulocyte count

McCartney DL et al. “Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging.” Genome Biology 22(1):194 (2021)
Allele T
OR 0.07
p 2.0e-83
N 6,152
Large GWAS
African American or Afro-Caribbean
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 T
OR 0.29
p 4.0e-12
N 169,822
Large GWAS
European

level of C-X-C motif chemokine 2 in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 1.29
p 5.0e-82
N 466
Small GWAS
African American or Afro-Caribbean

C-X-C motif chemokine 6 level

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 1.07
p 2.0e-45
N 466
Small GWAS
African American or Afro-Caribbean

growth-regulated alpha protein measurement

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 1.00
p 4.0e-38
N 466
Small GWAS
African American or Afro-Caribbean

eotaxin measurement

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 0.97
p 2.0e-35
N 466
Small GWAS
African American or Afro-Caribbean

lymphocyte percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.26
p 6.0e-27
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 C
OR 0.21
p 7.0e-15
N 394,642
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 C
OR 0.27
p 2.0e-10
N 171,748
Large GWAS
European

neutrophil percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.26
p 3.0e-26
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 C
OR 0.23
p 1.0e-16
N 394,642
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 C
OR 0.28
p 2.0e-11
N 171,542
Large GWAS
European

level of proenkephalin-B in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 0.76
p 3.0e-20
N 466
Small GWAS
African American or Afro-Caribbean

C-C motif chemokine 14 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.53
p 3.0e-18
N 47,745
Large GWAS
European
▶

ClinVar annotation

Pathogenic
2 submitters12 publications

DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE; Resistance to Plasmodium vivax infection; White blood cell count quantitative trait locus 1 (WBCQ1)

View on ClinVar →
▶

Research that mentions this SNP (5)

▶
Genetic variability in DNA repair and cell cycle control pathway genes and risk of smoking‐related lung cancer
AssociationN=1,651Shama C. Buch et al.(2012)· Molecular Carcinogenesis

This case-control study of 722 lung cancer cases and 929 controls examined 240 SNPs in DNA repair and cell cycle control pathway genes among smokers. Thirty-eight SNPs were associated with lung cancer risk at P<0.05, with strongest associations in GTF2H4 (rs2074508), LIG1 (rs10500298), PARP1 (rs747658, rs3219073), and XRCC1 (rs1799782, rs3213255). A genetic risk score combining 31 SNPs showed 3.44-fold increased risk in the highest versus lowest quartile.

Traits studied:AdenocarcinomaLung cancerNon-small cell lung cancerSmall cell lung cancerSmoking-related lung cancerSquamous cell carcinoma
PubMedDOIMetascience Observatory
▶
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
PubMedDOIMetascience Observatory
▶
Association ofCHRNA4polymorphisms with smoking behavior in two populations
AssociationN=3,039Shizhong Han et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This candidate gene association study examined five CHRNA4 SNPs in 1,249 European-Americans and 1,790 African-Americans to evaluate associations with smoking behavior. The synonymous SNP rs1044394 was significantly associated with nicotine dependence (DSM-IV ND: P=0.001; FTND: P=0.01) and remained significant after multiple testing correction for ND (P=0.033). Rs2236196 was associated with cigarettes per day (P=0.003), with similar association patterns observed in both ancestry groups.

Traits studied:Cigarettes per dayFagerstrom Test of Nicotine DependenceNicotine dependenceSmoking behavior
PubMedDOIMetascience Observatory
▶
Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans
AssociationN=30,551Ken Sin Lo et al.(2011)· Human Genetics

Genetic association study in 23,439 Caucasians and 7,112 African Americans identified novel loci modulating hematological traits. G6PD rs1050828 (Val68Met) shows strong association with red blood cell count, hemoglobin, hematocrit, and mean corpuscular volume in African Americans (P < 2.0 × 10^−13), while TPM4 rs8109288 associates with platelet count in both Caucasians and African Americans (P = 3.0 × 10^−7). HBA2-HBA1 rs1211375 associates with red blood cell traits specifically in African Americans (P < 7 × 10^−8). Study replicated 36 previously reported associations and highlights ethnic differences in genetic architecture of blood traits.

Traits studied:Basophil countEosinophil countHematocritHemoglobinLymphocyte countMean corpuscular hemoglobinMean corpuscular hemoglobin concentrationMean corpuscular volumeMean platelet volumeMonocyte countNeutrophil countPlatelet countRed blood cell countWhite blood cell count
PubMedDOIMetascience Observatory
▶
Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end stage renal disease
AssociationN=1,252Keith L. Keene et al.(2008)· Human Genetics

This study evaluated the impact of population admixture on genetic association studies of type 2 diabetes and end-stage renal disease in African Americans using 70 ancestry informative markers (AIMs) genotyped in 577 cases and 596 controls. Eight T2DM candidate genes (TCF7L2, PPARG, CAPN10, KCNJ11, TCF1, HNF4A, ESR1, ENPP1) with 208 SNPs total were analyzed for association, with 47 SNPs (22.6%) nominally associated before admixture adjustment, but 9 of those (4% overall, 19% of associated SNPs) lost significance after adjusting for African ancestry. The admixture impact on association results was significantly correlated with absolute delta values (differences in allele frequencies between Yoruba and European populations) across dominant (r²=0.1997, P=0.0051), additive (r²=0.2662, P=0.0015), and recessive (r²=0.1735, P=0.0410) models.

Traits studied:Diabetic NephropathyEnd-Stage Renal DiseaseType 2 Diabetes Mellitus
PubMedDOIMetascience 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]

View all ACKR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…