Rs2814778

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Orientationplus
Geno Mag Summary
(A;A) 1 Duffy-positive
(A;G) Duffy-positive
(G;G) Duffy-negative: increased odds of HIV infection upon exposure, but slowed disease progression if infected
ReferenceGRCh38 38.1/141
Chromosome1
Position159204893
GeneACKR1
is asnp
is mentioned by
dbSNPrs2814778
Exacrs2814778
PheGenIrs2814778
nextbiors2814778
hapmaprs2814778
1000 genomesrs2814778
hgdprs2814778
ensemblrs2814778
gopubmedrs2814778
geneviewrs2814778
scholarrs2814778
googlers2814778
pharmgkbrs2814778
gwascentralrs2814778
openSNPrs2814778
23andMers2814778
23andMe allrs2814778
SNP Nexus

SNPshotrs2814778
SNPdbers2814778
MSV3drs2814778
GMAF0.2245
Max Magnitude1
? (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 19180233OA-icon.png] rs2814778(G;G) protect against Plasmodium vivax malaria and predicts of white blood cell and neutrophil count

23andMe blog discussion

Neighborrs12075
Distance671
OMIM611862
DescWHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1; WBCQ1
Variant
Relatedalso
OMIM110700
DescBLOOD GROUP--DUFFY SYSTEM; FY
Variant
Relatedalso


OMIM613665
DescDUFFY ANTIGEN RECEPTOR FOR CHEMOKINES; DARC
Variant
Relatedalso
GWAS snp
PMID [PMID 21507922OA-icon.png]
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 22207676OA-icon.png] The association between a Darc gene polymorphism and clinical outcomes in African Americans with acute lung injury

GWAS snp
PMID [PMID 22037903OA-icon.png]
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 15660291OA-icon.png] Population structure, admixture, and aging-related phenotypes in African American adults: the Cardiovascular Health Study.


[PMID 16685648OA-icon.png] Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence.


[PMID 17069770OA-icon.png] Personality traits of agreeableness and extraversion are associated with ADH4 variation.


[PMID 17185388OA-icon.png] Multiple ADH genes modulate risk for drug dependence in both African- and European-Americans.


[PMID 18179887OA-icon.png] 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 18654799OA-icon.png] 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 18710383OA-icon.png] Duffy (Fy), DARC, and neutropenia among women from the United States, Europe and the Caribbean.


[PMID 18827265OA-icon.png] Gene encoding Duffy antigen/receptor for chemokines is associated with asthma and IgE in three populations.


[PMID 19369910OA-icon.png] The efficacies of clozapine and haloperidol in refractory schizophrenia are related to DTNBP1 variation.


[PMID 19593725OA-icon.png] Association of maternally inherited GNAS alleles with African-American male birth weight.


[PMID 19737746OA-icon.png] 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 20021678OA-icon.png] Evaluation of self-reported ethnicity in a case-control population: the stroke prevention in young women study.


[PMID 21257350OA-icon.png] DNA-based methods in the immunohematology reference laboratory.


GET Evidence
rs2814778
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.180581
summary



Malaria Resistance (Duffy Antigen)


ClinVar
Risk rs2814778(G;G)
Alt rs2814778(G;G)
Reference rs2814778(A;A)
Significance Other
Disease DUFFY BLOOD GROUP SYSTEM Resistance to Plasmodium vivax infection White blood cell count quantitative trait locus 1
Variation info
Gene ACKR1
CLNDBN DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE Resistance to Plasmodium vivax infection White blood cell count quantitative trait locus 1
Reversed 1
HGVS NC_000001.11:g.159204893T>C
CLNSRC OMIM Allelic Variant dbRBC - Blood Group Antigen Gene Mutation Database
CLNACC RCV000000006.2, RCV000000007.2, RCV000000008.1,