rs2549782
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 1.6 | 1.6x increased risk for preeclampsia in most populations |
| (G;T) | 1.3 | 1.3x increased risk for preeclampsia in most populations |
| (T;T) | 0 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 96895296 |
| Gene | ERAP1, ERAP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2549782 |
| dbSNP (classic) | rs2549782 |
| ClinGen | rs2549782 |
| ebi | rs2549782 |
| HLI | rs2549782 |
| Exac | rs2549782 |
| Gnomad | rs2549782 |
| Varsome | rs2549782 |
| LitVar | rs2549782 |
| Map | rs2549782 |
| PheGenI | rs2549782 |
| Biobank | rs2549782 |
| 1000 genomes | rs2549782 |
| hgdp | rs2549782 |
| ensembl | rs2549782 |
| geneview | rs2549782 |
| scholar | rs2549782 |
| rs2549782 | |
| pharmgkb | rs2549782 |
| gwascentral | rs2549782 |
| openSNP | rs2549782 |
| 23andMe | rs2549782 |
| SNPshot | rs2549782 |
| SNPdbe | rs2549782 |
| MSV3d | rs2549782 |
| GWAS Ctlg | rs2549782 |
| GMAF | 0.4458 |
| Max Magnitude | 1.6 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs2549782 is a SNP in the endoplasmic reticulum aminopeptidase 2 ERAP2 gene.
[PMID 24040622
] A Novel ERAP2 Haplotype Structure in a Chilean Population: Implications for ERAP2 Protein Expression and Preeclampsia Risk
[PMID 22837489] A common single nucleotide polymorphism in endoplasmic reticulum aminopeptidase 2 induces a specificity switch that leads to altered antigen processing.
[PMID 21569342] A case-control study of 1103 Chilean maternal-fetal dyads and 1637 unpaired African American samples (836 maternal, 837 fetal) concluded that the fetal minor allele rs2549782(G) was associated with 1.3x increased risk (CI: 1.075-1.619) for pre-eclampsia in the African American population (p = 0.009), but not in the Chilean population.
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[PMID 20843824] Genetic diversity at endoplasmic reticulum aminopeptidases is maintained by balancing selection and is associated with natural resistance to HIV-1 infection.
[PMID 20595269] Serum cytokine receptors in ankylosing spondylitis: relationship to inflammatory markers and endoplasmic reticulum aminopeptidase polymorphisms.
[PMID 19578876] The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations
[PMID 19433412] Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis.
[PMID 25787521] [172-POS]: Comparative expression profiling of endoplasmic reticulum aminopeptidase 2 and human leukocyte antigen-C expression in choriocarcinoma cell lines
[PMID 25609128] [A study on the relationship between endoplasmic reticulum aminopeptidase2 genetic polymorphisms and non-small cell lung cancer in Yunnan Han population]
[PMID 32360304] Endoplasmic reticulum aminopeptidase 2 gene single nucleotide polymorphisms in association with susceptibility to ankylosing spondylitis in an Iranian population.
