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rs34599082

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2 Duffy FY(bwk) blood group, and possible malarial resistance
(A;G) 2 carrier of a Duffy weak allele, and possible malarial resistance
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome1
Position159205704
GeneDARC
is asnp
is mentioned by
dbSNPrs34599082
ebirs34599082
HLIrs34599082
Exacrs34599082
Varsomers34599082
Maprs34599082
PheGenIrs34599082
hapmaprs34599082
1000 genomesrs34599082
hgdprs34599082
ensemblrs34599082
gopubmedrs34599082
geneviewrs34599082
scholarrs34599082
googlers34599082
pharmgkbrs34599082
gwascentralrs34599082
openSNPrs34599082
23andMers34599082
23andMe allrs34599082
SNP Nexus

SNPshotrs34599082
SNPdbers34599082
MSV3drs34599082
GWAS Ctlgrs34599082
GMAF0.005969
Max Magnitude2

rs34599082, also known as c.265C>T, p.Arg89Cys and R89C, represents an uncommon variant in the DARC gene on chromosome 1, which is better known for it's role as part of the Duffy blood group (antigen) on red blood cells.

Found in ~1% of the population, the rs34599082(A) allele (as represented in dbSNP/minus orientation) encodes the Duffy blood group FY(bwk) phenotype, which is also known as FY-weak. This allele results in lower amounts of DARC protein, and thus lower antigen expression and chemokine binding ability.

This variant may offer some protection against infection by malaria.[PMID 11369664OA-icon.png]


ClinVar
Risk rs34599082(A;A)
Alt rs34599082(A;A)
Reference rs34599082(G;G)
Significance Pathogenic
Disease DUFFY BLOOD GROUP SYSTEM
Variation info
Gene ACKR1
CLNDBN DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE
Reversed 1
HGVS NC_000001.10:g.159175494C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000009.3,



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