rs12075
| Orientation | plus |
| Stabilized | 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 |
| 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
| 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.
