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: C0748355
Disease:
Acute respiratory distress
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: C0011311
Disease:
Dengue Fever
0.010 GeneticVariation BEFREE In naturally occurring, genetic loss-of-function studies, MKs from healthy subjects harboring a homozygous mutation in IFITM3 (rs12252-C, a common single-nucleotide polymorphism in areas of the world where DENV is endemic) were significantly more susceptible to DENV infection. 30723081 2019
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0019101
Disease:
Hemorrhagic Fever with Renal Syndrome
0.010 GeneticVariation BEFREE Taken together, we conclude that IFITM3, negatively regulated by NRIR, inhibits HTNV infection, and its SNP rs12252 correlates with the plasma HTNV load and the disease severity of patients with HFRS. 28096800 2016
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C0019163
Disease:
Hepatitis B
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: C0524909
Disease:
Hepatitis B, Chronic
0.010 GeneticVariation BEFREE To address this issue, we explore the relationship between the IFITM3-rs12252 genetic variants and the progression of HCC in this study.A total of 336 candidates were enrolled in the study, including 156 patients with HBV related HCC and 180 patients with chronic Hepatitis B infections or liver cirrhosis. 30633185 2019
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C2363741
Disease:
HIV-1 infection
0.010 GeneticVariation BEFREE The current study shows that the IFITM3-rs12252 genetic variant affects the progression of HIV-1 infection, but not the acquisition. 25784441 2015
dbSNP: rs12252
rs12252
Entrez Id: 10410
Gene Symbol: IFITM3
IFITM3
CUI: C3854222
Disease:
Human immunodeficiency virus (HIV) II infection category B1
0.010 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: C0020443
Disease:
Hypercholesterolemia
0.010 GeneticVariation BEFREE The aim of this study was to investigate the association of rs12252 C polymorphism, BMI, diabetes, and hypercholesterolemia with mild flu in an Iranian population. 29121968 2017
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
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: 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 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 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 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 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 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 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 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 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 The only Spanish patient homozygous for rs12252-C had a neurological disorder (a known risk factor for severe IVI) and mild influenza. 27492307 2016