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rs2549782

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome5
Position96895296
GeneERAP2
is asnp
is mentioned by
dbSNPrs2549782
ebirs2549782
HLIrs2549782
Exacrs2549782
Varsomers2549782
Maprs2549782
PheGenIrs2549782
hapmaprs2549782
1000 genomesrs2549782
hgdprs2549782
ensemblrs2549782
gopubmedrs2549782
geneviewrs2549782
scholarrs2549782
googlers2549782
pharmgkbrs2549782
gwascentralrs2549782
openSNPrs2549782
23andMers2549782
23andMe allrs2549782
SNP Nexus

SNPshotrs2549782
SNPdbers2549782
MSV3drs2549782
GWAS Ctlgrs2549782
GMAF0.4458
Max Magnitude1.6
? (G;G) (G;T) (T;T) 28
rs2549782 is a SNP in the endoplasmic reticulum aminopeptidase 2 ERAP2 gene.


[PMID 24040622OA-icon.png] A Novel ERAP2 Haplotype Structure in a Chilean Population: Implications for ERAP2 Protein Expression and Preeclampsia Risk

[PMID 22837489OA-icon.png] A common single nucleotide polymorphism in endoplasmic reticulum aminopeptidase 2 induces a specificity switch that leads to altered antigen processing.

[PMID 21569342OA-icon.png] 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. }}

[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 19578876OA-icon.png] The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations

[PMID 19433412] Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis.


GET Evidence
ERAP2-K392N
aa_change Lys392Asn
aa_change_short K392N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.542294
summary



[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]