rs34599082

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

1

Position

159205704

Gene

ACKR1

is a	snp
is	mentioned by
dbSNP	rs34599082
dbSNP (classic)	rs34599082
ClinGen	rs34599082
ebi	rs34599082
HLI	rs34599082
Exac	rs34599082
Gnomad	rs34599082
Varsome	rs34599082
LitVar	rs34599082
Map	rs34599082
PheGenI	rs34599082
Biobank	rs34599082
1000 genomes	rs34599082
hgdp	rs34599082
ensembl	rs34599082
geneview	rs34599082
scholar	rs34599082
google	rs34599082
pharmgkb	rs34599082
gwascentral	rs34599082
openSNP	rs34599082
23andMe	rs34599082
SNPshot	rs34599082
SNPdbe	rs34599082
MSV3d	rs34599082
GWAS Ctlg	rs34599082

GMAF

0.005969

Max Magnitude

2

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 11369664]

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 UniProtKB (protein)
CLNACC	RCV000000009.3,

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