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: 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: 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: C0042769
Disease:
Virus Diseases
0.040 GeneticVariation BEFREE The SNP rs12252-C allele alters the function of interferon-induced transmembrane protein-3 increasing the disease severity of influenza virus infection in Caucasians, but the allele is rare. 23361009 2013
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
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0035243
Disease:
Respiratory Tract Infections
0.010 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: C0035222
Disease:
Respiratory Distress Syndrome, Adult
0.010 GeneticVariation BEFREE Compared with patients with the rs12252-T/T or rs12252-T/C genotype of IFITM3, patients with the C/C genotype had a shorter time from disease onset to the time point when they sought medical aid (hospital admission or antiviral therapy) and a shorter interval to development of the acute respiratory distress syndrome stage (reflected by shorter intervals between clinical onset and methylprednisolone treatments and higher rates of mechanical ventilator use), as well as experiencing elevated/prolonged lung virus titers and cytokine production and higher mortality. 24367104 2014
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0155870
Disease:
Pneumonia and influenza
0.010 GeneticVariation BEFREE Together with rs12252 sequencing, early monitoring of plasma cytokines is thus of prognostic value for the treatment and management of severe influenza pneumonia. 24367104 2014
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0032285
Disease:
Pneumonia
0.010 GeneticVariation BEFREE We have genotyped a possible splice-site altering single-nucleotide polymorphism (rs12252) in the IFITM3 gene in 34 patients with H1N1 influenza and severe pneumonia, and >5000 individuals comprising patients with community-acquired mild lower respiratory tract infection and matched controls of Caucasian ancestry. 23997235 2014
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0027765
Disease:
nervous system disorder
0.010 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: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Furthermore, the patients with CC genotype were found with bigger tumor size, higher percentage of vascular thrombosis, higher distribution of low differentiation and higher 5-year relapse rate than those with CT/TT genotypes.This study indicates a correlation between the IFITM3-rs12252 CC genotype and the progression of HCC. 30633185 2019
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0149725
Disease:
Lower respiratory tract infection
0.010 GeneticVariation BEFREE We have genotyped a possible splice-site altering single-nucleotide polymorphism (rs12252) in the IFITM3 gene in 34 patients with H1N1 influenza and severe pneumonia, and >5000 individuals comprising patients with community-acquired mild lower respiratory tract infection and matched controls of Caucasian ancestry. 23997235 2014
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0023890
Disease:
Liver Cirrhosis
0.010 GeneticVariation BEFREE Polymerase chain reaction (PCR) was employed to determine the gene polymorphism of IFITM3, and analyzed with the GraphPad Prism v 5.The patients with HCC had a significantly higher proportion of IFITM3 rs12252-CC as compared with the patients with chronic HBV infection or liver cirrhosis. 30633185 2019
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE Polymerase chain reaction (PCR) was employed to determine the gene polymorphism of IFITM3, and analyzed with the GraphPad Prism v 5.The patients with HCC had a significantly higher proportion of IFITM3 rs12252-CC as compared with the patients with chronic HBV infection or liver cirrhosis. 30633185 2019
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: C3665951
Disease:
Influenza due to Influenza A virus subtype H7N9
0.010 GeneticVariation BEFREE The present analysis provides reported data on the H7N9 influenza-induced "cytokine storm" at the site of infection in humans and identifies the rs12252-C genotype that compromises IFITM3 function as a primary genetic correlate of severe H7N9 pneumonia. 24367104 2014
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0858004
Disease:
Influenza A virus infection
0.020 GeneticVariation BEFREE No Correlation of the Disease Severity of Influenza A Virus Infection with the rs12252 Polymorphism of the Interferon-Induced Transmembrane Protein 3 Gene. 28813716 2017
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0858004
Disease:
Influenza A virus infection
0.020 GeneticVariation BEFREE The single nucleotide polymorphism rs12252-C within IFITM3 has been shown to be associated with severe influenza A virus infection. 29202190 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 IFITM3 polymorphism rs12252-C restricts influenza A viruses. 25314048 2014
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: 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: 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 <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 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 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