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rs3918396

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) normal
(A;G) normal
(G;G) if a smoker, somewhat more likely to develop COPD
ReferenceGRCh38 38.1/142
Chromosome20
Position3671118
GeneADAM33
is asnp
is mentioned by
dbSNPrs3918396
ebirs3918396
HLIrs3918396
Exacrs3918396
Varsomers3918396
Maprs3918396
PheGenIrs3918396
hapmaprs3918396
1000 genomesrs3918396
hgdprs3918396
ensemblrs3918396
gopubmedrs3918396
geneviewrs3918396
scholarrs3918396
googlers3918396
pharmgkbrs3918396
gwascentralrs3918396
openSNPrs3918396
23andMers3918396
23andMe allrs3918396
SNP Nexus

SNPshotrs3918396
SNPdbers3918396
MSV3drs3918396
GWAS Ctlgrs3918396
GMAF0.04821
Max Magnitude
rs3918396, also known as Ile710Val or S-1, is a SNP in the ADAM metallopeptidase domain 33 ADAM33 gene.

A study of ~600 non-Hispanic white males who smoked concluded that rs3918396(G;G) carriers, i.e. those homozygous for the most common allele, were more likely (p< 0.0026, after Bonferroni correction) to develop chronic obstructive pulmonary disease (COPD) than carriers of one or two rs3918396(A) alleles.10.1186/1465-9921-10-21


Venter snp
Source plos
Gene ADAM33
allele T
frequency
sift TOLERATED
HuRef 1103643143768
Disease Association Defects in ADAM33 may be a cause of susceptibility to asthma.



Neighborrs44707
Distance539
Neighborrs612709
Distance442


[PMID 19236319] Smoke exposure interacts with ADAM33 polymorphisms in the development of lung function and hyperresponsiveness


[PMID 12695330OA-icon.png] Exo-proofreading, a versatile SNP scoring technology.


[PMID 16784537OA-icon.png] The role of polymorphisms in ADAM33, a disintegrin and metalloprotease 33, in childhood asthma and lung function in two German populations.


[PMID 17878941OA-icon.png] ADAM33, a new candidate for psoriasis susceptibility.


[PMID 18778489OA-icon.png] Association of ADAM33 gene polymorphisms with adult allergic asthma and rhinitis in a Chinese Han population.


[PMID 19284602OA-icon.png] Adam33 polymorphisms are associated with COPD and lung function in long-term tobacco smokers.


GET Evidence
ADAM33-V710I
aa_change Val710Ile
aa_change_short V710I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0655249
summary



[PMID 23245479] The association between the IL-4, ADRβ2 and ADAM 33 gene polymorphisms and asthma in the Taiwanese population


[PMID 22871616] T1 and T2 ADAM33 single nucleotide polymorphisms and the risk of childhood asthma in a Saudi Arabian population: a pilot study.


[PMID 23380143] A disintegrin and metalloprotease 33 (ADAM33) gene polymorphisms and the risk of asthma: a meta-analysis.


[PMID 25691950OA-icon.png] Association of ADAM33 gene polymorphisms with allergic asthma