Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C3553462
Disease:
INFLUENZA, SEVERE, SUSCEPTIBILITY TO
G 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE In recent years a single nucleotide polymorphism, interferon-induced transmembrane protein 3 (IFITM3) rs12252, has been shown to alter the severity of influenza infection in Asian populations. 30987701 2019
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE By performing high-throughput RNA sequencing on primary dendritic cells and peripheral blood mononuclear cells isolated from pandemic H1N1 influenza and human immunodeficiency virus-1 (HIV-1) infected patients we show that full-length IFITM3 mRNA is dominantly expressed (>99%) across all rs12252 genotypes. 29202190 2018
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE For each sample <i>IFITM3</i> rs12252 genotype was determined and antibody levels in response to pdmH1N1, H3N2 and Influenza B infection were measured for each time point. 29868492 2018
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE Neither rs12252 nor rs8072510 showed an association according to the presence of clinical risk factors for influenza complications (P > 0.05), suggesting that these factors did not modify associations between the SNPs and hospitalized influenza. 29053189 2018
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE Here strong association between rs12252 and influenza was found in all four genetic models. 30421689 2018
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE Our results indicated increased risk of both severe and mild influenza in subjects carrying the IFITM3 rs12252 polymorphism in the allele contrast C vs. T: OR (severe) = 1.69, 95% CI = 1.23-2.33, P = 0.001, and OR (mild) = 1.46, 95% CI = 1.13-1.87, P = 0.004. 29940276 2018
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE <b>Conclusion:</b><i>IFITM3</i> rs12252</span> CC genotype was associated with severity rather than susceptibility of IVI in Chinese population, and this strong effect was observed in all subtypes of seasonal influenza infection. 28713779 2017
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE Previous studies have reported associations of IFITM3 SNP rs12252 with severe influenza, but evidence of association and the mechanism by which risk is conferred remain controversial. 28714988 2017
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE rs12252 was not associated with susceptibility to influenza-related critical illness in children or with critical illness severity. 28531322 2017
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE Recent studies suggest an association between the Interferon Inducible Transmembrane 3 (IFITM3) rs12252 variant and the course of influenza infection. 27351739 2016
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE The only Spanish patient homozygous for rs12252-C had a neurological disorder (a known risk factor for severe IVI) and mild influenza. 27492307 2016
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE Our meta-analysis suggests that IFITM3 rs12252 T>C polymorphism is significantly associated with increased risk of severe influenza but not with the chance of initial virus infection. 25778715 2015
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE The single-nucleotide polymorphism rs12252-C, which is rare in Caucasian populations, but much more common in the Han Chinese population, has been found in much higher homozygous frequency in patients with severe acute influenza. 25784441 2015
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE Our meta-analysis suggests a significant association between a minor IFITM3 allele (SNP rs12252-C) with severe influenza</span> susceptibility, but not in mild influenza subjects, in both UK Caucasians and Han Chinese population. 25942469 2015
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE We found evidence of an association between rs12252 rare allele homozygotes and susceptibility to mild influenza (in patients attending primary care) but could not confirm a previously reported association between this single-nucleotide polymorphism and susceptibility to severe H1N1 infection. 23997235 2014
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE They also suggested that mechanisms, other than viral entry restriction, might contribute to variations in clinical outcomes of H1N1 influenza associated with rs12252-C. 25314048 2014
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE Interferon-induced transmembrane protein-3 genetic variant rs12252-C is associated with severe influenza in Chinese individuals. 23361009 2013
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0021400
Disease:
Influenza
0.100 GeneticVariation BEFREE We find that a statistically significant number of hospitalized subjects show enrichment for a minor IFITM3 allele (SNP rs12252-C) that alters a splice acceptor site, and functional assays show the minor CC genotype IFITM3 has reduced influenza virus restriction in vitro. 22446628 2012
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0042769
Disease:
Virus Diseases
0.040 GeneticVariation BEFREE The IFITM3 allele (rs12252-C) was suggested as a population-based genetic risk factor for severe influenza virus infection by A(H1N1)pdm09. 28842783 2018
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C2062441
Disease:
Influenza A
0.040 GeneticVariation BEFREE Moreover, the risk of <i>IFITM3</i> rs12252-C variant for severe IVI was specific for both influenza A and influenza B. 28713779 2017
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C2062441
Disease:
Influenza A
0.040 GeneticVariation BEFREE Several studies suggest that the CC genotype at the single nucleotide polymorphism (SNP) rs12252 of IFITM3 confers a genetic predisposition to pandemic influenza A in Europeans and Han Chinese, although one study in a British cohort failed to show an association. 28813716 2017
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0042769
Disease:
Virus Diseases
0.040 GeneticVariation BEFREE <i>IFITM3</i> rs12252-C was associated with severe influenza virus infection in several studies, however whether this association is universal to all types of influenza virus or diverse ethnic populations remain controversial. 28713779 2017
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C2062441
Disease:
Influenza A
0.040 GeneticVariation BEFREE The IFITM3 rs12252 variant was associated with respiratory infection hospitalization but not specifically in patients infected with Influenza A(H1N1)pdm09. 27351739 2016
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0042769
Disease:
Virus Diseases
0.040 GeneticVariation BEFREE Our meta-analysis suggests that IFITM3 rs12252 T>C polymorphism is significantly associated with increased risk of severe influenza but not with the chance of initial virus infection. 25778715 2015