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rs8192288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) normal
(G;T) normal
(T;T) possibly reduced lung function, see details
ReferenceGRCh38 38.1/141
Chromosome4
Position24795056
GeneSOD3
is asnp
is mentioned by
dbSNPrs8192288
ebirs8192288
HLIrs8192288
Exacrs8192288
Varsomers8192288
Maprs8192288
PheGenIrs8192288
hapmaprs8192288
1000 genomesrs8192288
hgdprs8192288
ensemblrs8192288
gopubmedrs8192288
geneviewrs8192288
scholarrs8192288
googlers8192288
pharmgkbrs8192288
gwascentralrs8192288
openSNPrs8192288
23andMers8192288
23andMe allrs8192288
SNP Nexus

SNPshotrs8192288
SNPdbers8192288
MSV3drs8192288
GWAS Ctlgrs8192288
GMAF0.05647
Max Magnitude
rs8192287 and the nearby rs8192288 are both SNPs in the superoxide dismutase 3 SOD3 gene. This gene encodes a protein that inhibits breakdown of lung matrix components such as collagen.

A large study ultimately genotyping over 45,000 Danish adults concludes that the very rare individuals who carry only minor alleles at both rs8192287 and rs8192288 have reduced (by 7%) lung capacity compared to noncarriers. They are also at higher risk (2.5x or 3.7x, respectively) for being hospitalized in association with, or dying from, chronic obstructive pulmonary disease, also known as COPD.[PMID 18703790OA-icon.png]

Neighborrs8192287
Distance110
Neighborrs699473
Distance125
[PMID 18948423OA-icon.png] Extracellular superoxide dismutase haplotypes are associated with acute lung injury and mortality.


[PMID 19318538OA-icon.png] Superoxide dismutase 3, extracellular (SOD3) variants and lung function.


[PMID 20673035OA-icon.png] Polymorphisms in the superoxide dismutase-3 gene are associated with emphysema in COPD.