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rs12075

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs12075(A;A)
Make rs12075(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position159205564
GeneACKR1
is asnp
is mentioned by
dbSNPrs12075
ebirs12075
HLIrs12075
Exacrs12075
Varsomers12075
Maprs12075
PheGenIrs12075
hapmaprs12075
1000 genomesrs12075
hgdprs12075
ensemblrs12075
gopubmedrs12075
geneviewrs12075
scholarrs12075
googlers12075
pharmgkbrs12075
gwascentralrs12075
openSNPrs12075
23andMers12075
23andMe allrs12075
SNP Nexus

SNPshotrs12075
SNPdbers12075
MSV3drs12075
GWAS Ctlgrs12075
GMAF0.4619
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene IGSF4B
allele A
frequency 0.517
sift TOLERATED
HuRef 1103675237185
Disease Association Individuals that do not produce the Duffy antigen (FY(A- B-)) are more resistant to vivax malaria. This allele is found predominantly in population of african origin.



Neighborrs2814778
Distance671
Neighborrs13962
Distance173
[PMID 20040767OA-icon.png] Duffy antigen receptor for chemokines (Darc) polymorphism regulates circulating concentrations of monocyte chemoattractant protein-1 and other inflammatory mediators
OMIM110700
Desc
Variant0001
Relatedalso
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 5E-24
Odds Ratio 1.2700 None
GWAS snp
PMID [PMID 22291609OA-icon.png]
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
CLNACC RCV000000005.2,



[PMID 16254603OA-icon.png] Perspectives on human genetic variation from the HapMap Project.


[PMID 16255080OA-icon.png] A haplotype map of the human genome.


[PMID 19737746OA-icon.png] 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 21257350OA-icon.png] DNA-based methods in the immunohematology reference laboratory.


[PMID 23017229OA-icon.png] 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


GET Evidence
DARC-G44D
aa_change Gly44Asp
aa_change_short G44D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.554688
summary



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

GWAS snp
PMID [PMID 23251661OA-icon.png]
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