Rs2814778

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is asnp
is mentioned by
dbSNPrs2814778
hapmaprs2814778
hgdprs2814778
ensemblrs2814778
gopubmedrs2814778
scholarrs2814778
googlers2814778
pharmgkbrs2814778
hgvbaseg2prs2814778
medrefsnprs2814778
23andMers2814778
SNP Nexus

GeneDARC
Chromosome1
Orientationminus
Position157441306
GenotypeEffect
rs2814778(A;A)Duffy-positive
rs2814778(A;G)Duffy-positive
rs2814778(G;G)Duffy-negative: increased odds of HIV infection upon exposure, but slowed disease progression if infected


Genotypes Magnitude Summary
Rs2814778(A;A) Duffy-positive
Rs2814778(A;G) Duffy-positive
Rs2814778(G;G) Duffy-negative: increased odds of HIV infection upon exposure, but slowed disease progression if infected
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 south-western Native American populations.

[PMID 19180233] rs2814778(G;G) protect against Plasmodium vivax malaria and predicts of white blood cell and neutrophil count

spittoon discussion

Neighborrs12075
Distance671
Related to WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1; WBCQ1 according to omim 611862. See also


Related to BLOOD GROUP--DUFFY SYSTEM; FY according to omim 110700. See also


PharmGKBPA162168956
NameDARC: T-46C
AnnotationAfrican-American individuals with the C/C genotype of this promoter SNP are 40% more likely to acquire HIV-1 than T/T or T/C individuals. However, once infected, those with the C/C genotype exhibited slower disease progression.
GeneDARC, CADM3
Featue
EvidencePubMed ID:18621010
Drugs
DiseasesAcquired Immunodeficiency Syndrome
Curation LevelCurated