rs12075

plus

Geno	Mag	Summary
(A;A)	1	Duffy Fy(a-b+) phenotype likely (unless Duffy null mutation is present)
(A;G)	1	Duffy Fy(a+b+) phenotype likely (unless Duffy null mutation is present)
(G;G)	1	Duffy Fy(a+b-) phenotype likely (unless Duffy null mutation is present)

Reference

GRCh38 38.1/141

Chromosome

1

Position

159205564

Gene

ACKR1

is a	snp
is	mentioned by
dbSNP	rs12075
dbSNP (classic)	rs12075
ClinGen	rs12075
ebi	rs12075
HLI	rs12075
Exac	rs12075
Gnomad	rs12075
Varsome	rs12075
LitVar	rs12075
Map	rs12075
PheGenI	rs12075
Biobank	rs12075
1000 genomes	rs12075
hgdp	rs12075
ensembl	rs12075
geneview	rs12075
scholar	rs12075
google	rs12075
pharmgkb	rs12075
gwascentral	rs12075
openSNP	rs12075
23andMe	rs12075
SNPshot	rs12075
SNPdbe	rs12075
MSV3d	rs12075
GWAS Ctlg	rs12075

GMAF

0.4619

Max Magnitude

1

rs12075, also known as c.125G>A, p.Gly42Asp and G42D, represents a well-studied variant in the ACKR1 gene on chromosome 1. This SNP encodes the major co-dominant alleles of the Duffy blood group antigen system (Fy).

The rs12075(G) allele encodes Gly42, which is the Fy(a) antigen. The rs12075(A) allele encodes Asp42, the Fy(b) antigen.

For some frequencies of the resulting phenotypes for this variant, see the ACKR1 page.

?

(A;A) (A;G) (G;G)

28

[PMID 20040767 ] Duffy antigen receptor for chemokines (Darc) polymorphism regulates circulating concentrations of monocyte chemoattractant protein-1 and other inflammatory mediators

OMIM	110700
Desc
Variant	0001
Related	also

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	5E-24
Odds Ratio	1.2700 None

GWAS snp
PMID	[PMID 22291609 ]
Trait
Title	A genome-wide association scan on the levels of markers of inflammation in sardinians reveals associations that underpin its complex regulation.
Risk Allele	A
P-val	4E-51
Odds Ratio	None None

ClinVar
Risk	Rs12075(A;A)
Alt	Rs12075(A;A)
Reference	Rs12075(G;G)
Significance	Non-pathogenic
Disease	DUFFY BLOOD GROUP SYSTEM
Variation	info
Gene	ACKR1
CLNDBN	DUFFY BLOOD GROUP SYSTEM, FYA/FYB POLYMORPHISM
Reversed	0
HGVS	NC_000001.10:g.159175354G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) dbRBC - Blood Group Antigen Gene Mutation Database
CLNACC	RCV000000005.2,

[PMID 16254603 ] Perspectives on human genetic variation from the HapMap Project.

[PMID 16255080 ] A haplotype map of the human genome.

[PMID 19737746 ] Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.

[PMID 21156192] A Duffy antigen receptor for chemokines (DARC) polymorphism that determines pro-fibrotic chemokine serum concentrations is not directly associated with severity of hepatitis C infection.

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

[PMID 23017229 ] Genome-wide association replicates the association of Duffy antigen receptor for chemokines (DARC) polymorphisms with serum monocyte chemoattractant protein-1 (MCP-1) levels in Hispanic children

[PMID 24260134 ] Effect of genetic variants in two chemokine decoy receptor genes, DARC and CCBP2, on metastatic potential of breast cancer

GWAS snp
PMID	[PMID 23251661 ]
Trait	Obesity-related traits
Title	Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
Risk Allele	A
P-val	1E-21
Odds Ratio	.10 [NR] pg/mL increase

[PMID 25647274] Duffy antigen receptor genetic variant and the association with Interleukin 8 levels

[PMID 28534526] Impact of genetic polymorphisms determining leukocyte/neutrophil count on chemotherapy toxicity.

[PMID 30970632 ] Impact of DARC rs12075 Variants on Liver Fibrosis Progression in Patients with Chronic Hepatitis C: A Retrospective Study.