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rs1828591

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 1.5 Reduced risk (0.77x) of chronic obstructive pulmonary disease (COPD)
(G;G) 2 Reduced risk (0.54x) for chronic pulmonary obstructive disease (COPD)
ReferenceGRCh38 38.1/141
Chromosome4
Position144559628
is asnp
is mentioned by
dbSNPrs1828591
ClinGenrs1828591
ebirs1828591
HLIrs1828591
Exacrs1828591
Varsomers1828591
Maprs1828591
PheGenIrs1828591
hapmaprs1828591
1000 genomesrs1828591
hgdprs1828591
ensemblrs1828591
gopubmedrs1828591
geneviewrs1828591
scholarrs1828591
googlers1828591
pharmgkbrs1828591
gwascentralrs1828591
openSNPrs1828591
23andMers1828591
23andMe allrs1828591
SNP Nexus

SNPshotrs1828591
SNPdbers1828591
MSV3drs1828591
GWAS Ctlgrs1828591
GMAF0.388
Max Magnitude2
? (A;A) (A;G) (G;G) 28
CPMC Logo.png

This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
Additional information is available here

GWAS snp
PMID [PMID 19300482OA-icon.png]
Trait Chronic Obstructive Pulmonary Disease
Title A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci
Risk Allele
P-val 1E-7
Odds Ratio 1.38 [1.17-1.63]


[PMID 19300500OA-icon.png] A genome-wide association study of pulmonary function measures in the Framingham Heart Study.

[PMID 19996190] Hedgehog-interacting protein is a COPD susceptibility gene: the Rotterdam Study.


GET Evidence
rs1828591
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.421875
summary



[PMID 23886569] Transient early wheeze and lung function in early childhood associated with chronic obstructive pulmonary disease genes


[PMID 23936167OA-icon.png] Refining Susceptibility Loci of Chronic Obstructive Pulmonary Disease with Lung eqtls


[PMID 25073350] [Genetic aspects of occupational chronic obstructive lung disease under exposure to various risk factors]