rs2814778
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1 | Duffy-positive |
| (A;G) | 1 | Duffy-positive |
| (G;G) | 1 | Duffy-negative, Fy(a-b-) phenotype; resistance to malaria;, increased odds of HIV infection upon exposure, but slowed disease progression if infected |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 159204893 |
| Gene | ACKR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2814778 |
| dbSNP (classic) | rs2814778 |
| ClinGen | rs2814778 |
| ebi | rs2814778 |
| HLI | rs2814778 |
| Exac | rs2814778 |
| Gnomad | rs2814778 |
| Varsome | rs2814778 |
| LitVar | rs2814778 |
| Map | rs2814778 |
| PheGenI | rs2814778 |
| Biobank | rs2814778 |
| 1000 genomes | rs2814778 |
| hgdp | rs2814778 |
| ensembl | rs2814778 |
| geneview | rs2814778 |
| scholar | rs2814778 |
| rs2814778 | |
| pharmgkb | rs2814778 |
| gwascentral | rs2814778 |
| openSNP | rs2814778 |
| 23andMe | rs2814778 |
| SNPshot | rs2814778 |
| SNPdbe | rs2814778 |
| MSV3d | rs2814778 |
| GWAS Ctlg | rs2814778 |
| GMAF | 0.2245 |
| Max Magnitude | 1 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs2814778 is within the DARC gene, which encodes the Duffy blood group antigen [PMID 7663520]. This SNP shows an almost perfectly fixed difference in frequency between Europeans and those with African ancestry. (One exception appears to be a certain population of Czech gypsies, and certain non-Ashkenazi Jewish populations.) Additionally the Namibian San samples of the CEPH-HGDP are, uncharacteristically for Africans, all AA homozygotes for this SNP.
The rs2814778 (G) allele is associated with African populations, while rs2814778 (A) is associated with European populations and southwestern Native American populations.
[PMID 19180233
] rs2814778(G;G) protect against Plasmodium vivax malaria and predicts of white blood cell and neutrophil count
23andMe blog discussion
| GWAS snp | |
|---|---|
| PMID | [PMID 21507922]
|
| Trait | |
| Title | Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. |
| Risk Allele | |
| P-val | 1E-8 |
| Odds Ratio | None None |
[PMID 22207676] The association between a Darc gene polymorphism and clinical outcomes in African Americans with acute lung injury
| GWAS snp | |
|---|---|
| PMID | [PMID 22037903]
|
| Trait | |
| Title | Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network. |
| Risk Allele | |
| P-val | 7E-55 |
| Odds Ratio | 1.3500 None |
[PMID 15660291] Population structure, admixture, and aging-related phenotypes in African American adults: the Cardiovascular Health Study.
[PMID 16685648] Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence.
[PMID 17069770] Personality traits of agreeableness and extraversion are associated with ADH4 variation.
[PMID 17185388] Multiple ADH genes modulate risk for drug dependence in both African- and European-Americans.
[PMID 18179887] Admixture mapping of white cell count: genetic locus responsible for lower white blood cell count in the Health ABC and Jackson Heart studies.
[PMID 18248572] Lack of Duffy antigen expression is associated with organ damage in patients with sickle cell disease.
[PMID 18654799] Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end stage renal disease.
[PMID 18710383] Duffy (Fy), DARC, and neutropenia among women from the United States, Europe and the Caribbean.
[PMID 18827265] Gene encoding Duffy antigen/receptor for chemokines is associated with asthma and IgE in three populations.
[PMID 19369910] The efficacies of clozapine and haloperidol in refractory schizophrenia are related to DTNBP1 variation.
[PMID 19593725] Association of maternally inherited GNAS alleles with African-American male birth weight.
[PMID 19737746] Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.
[PMID 19758966] Ethnic and genetic causes of neutropenia: clinical and therapeutic implications.
[PMID 20021678] Evaluation of self-reported ethnicity in a case-control population: the stroke prevention in young women study.
[PMID 21257350] DNA-based methods in the immunohematology reference laboratory.
Malaria Resistance (Duffy Antigen)
| ClinVar | |
|---|---|
| Risk | Rs2814778(G;G) |
| Alt | Rs2814778(G;G) |
| Reference | Rs2814778(A;A) |
| Significance | Other |
| Disease | DUFFY BLOOD GROUP SYSTEM Plasmodium vivax White blood cell count quantitative trait locus 1 |
| Variation | info |
| Gene | ACKR1 |
| CLNDBN | DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE Plasmodium vivax, resistance to White blood cell count quantitative trait locus 1 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.159174683T>C |
| CLNSRC | OMIM Allelic Variant dbRBC - Blood Group Antigen Gene Mutation Database |
| CLNACC | RCV000000006.4, RCV000000007.3, RCV000000008.3, |
[PMID 29596498] Analyses of genome wide association data, cytokines, and gene expression in African-Americans with benign ethnic neutropenia.
