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rs975278

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 1.5 1.5x higher risk for emphysema, higher in smokers
(A;G) 0
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome2
Position223982990
GeneSERPINE2
is asnp
is mentioned by
dbSNPrs975278
dbSNP (classic)rs975278
ClinGenrs975278
ebirs975278
HLIrs975278
Exacrs975278
Gnomadrs975278
Varsomers975278
LitVarrs975278
Maprs975278
PheGenIrs975278
Biobankrs975278
1000 genomesrs975278
hgdprs975278
ensemblrs975278
geneviewrs975278
scholarrs975278
googlers975278
pharmgkbrs975278
gwascentralrs975278
openSNPrs975278
23andMers975278
SNPshotrs975278
SNPdbers975278
MSV3drs975278
GWAS Ctlgrs975278
GMAF0.3085
Max Magnitude1.5

rs975278 is a SNP in the SERPINE2 gene.

A study involving 1,335 consecutive autopsies of elderly Japanese people found emphysema of more than moderate degree in 189 subjects and among 12 examined SNPs, found that only rs975278 was positively associated (with emphysema).rs975278(A;A) individuals were associated with emphysema (odds ratio 1.54, CI: 1.02-2.30, p = 0.037) and the association was more prominent in smokers (odds ratio 2.02, CI: 1.29-3.15, p = 0.002).[PMID 21067581OA-icon.png]

? (A;A) (A;G) (G;G) 28



[PMID 21611750] Association of SERPINE2 gene with the risk of chronic obstructive pulmonary disease and spirometric phenotypes in northern Han Chinese population


[PMID 22145704OA-icon.png] SERPINE2 haplotype as a risk factor for panlobular type of emphysema


[PMID 16358219OA-icon.png] The SERPINE2 gene is associated with chronic obstructive pulmonary disease.


[PMID 19017876OA-icon.png] Genetic associations with hypoxemia and pulmonary arterial pressure in COPD.


[PMID 19949669OA-icon.png] SERPINE2 polymorphisms and chronic obstructive pulmonary disease.


[PMID 20233420OA-icon.png] Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation.