Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6052130
rs6052130
Entrez Id: 57506
Gene Symbol: MAVS
MAVS
CUI: C0343641
Disease:
Human papilloma virus infection
0.010 GeneticVariation BEFREE In addition, a significant synergetic interaction between high-risk HPV infection and rs6052130 was found on an additive scale. 30463990 2019
dbSNP: rs6052130
rs6052130
Entrez Id: 57506
Gene Symbol: MAVS
MAVS
CUI: C0940937
Disease:
precancerous lesions
0.010 GeneticVariation BEFREE Moreover, <i>MAVS</i> rs6052130-mutant individuals have an increased vulnerability to high-risk HPV-induced cervical precancerous lesions. 30463990 2019
dbSNP: rs7269320
rs7269320
Entrez Id: 57506
Gene Symbol: MAVS
MAVS
CUI: C0042769
Disease:
Virus Diseases
0.010 GeneticVariation BEFREE Relatively weak inducible IFN-β production in HBV infected patients with IPS-1 rs7269320 SNP or wild-type may contribute to chronic virus infection. 30930359 2019
dbSNP: rs372572360
rs372572360
Entrez Id: 57506
Gene Symbol: MAVS
MAVS
CUI: C0700095
Disease:
Central neuroblastoma
0.010 GeneticVariation BEFREE Marked dysregulations of microbial defense factors Ifit3 and Rsad2 were consistently observed upon five analyses: (1) Pink1 <sup>-/-</sup> primary neurons in the first weeks after brain dissociation, (2) aged Pink1 <sup>-/-</sup> midbrain with transgenic A53T-alpha-synuclein overexpression, (3) human neuroblastoma cells with PINK1-knockdown and murine Pink1 <sup>-/-</sup> embryonal fibroblasts undergoing acute starvation, (4) triggering mitophagy in these cells with trifluoromethoxy carbonylcyanide phenylhydrazone (FCCP), and (5) subjecting them to pathogenic RNA-analogue poly(I:C). 28768533 2017
dbSNP: rs372572360
rs372572360
Entrez Id: 57506
Gene Symbol: MAVS
MAVS
CUI: C0027819
Disease:
Neuroblastoma
0.010 GeneticVariation BEFREE Marked dysregulations of microbial defense factors Ifit3 and Rsad2 were consistently observed upon five analyses: (1) Pink1 <sup>-/-</sup> primary neurons in the first weeks after brain dissociation, (2) aged Pink1 <sup>-/-</sup> midbrain with transgenic A53T-alpha-synuclein overexpression, (3) human neuroblastoma cells with PINK1-knockdown and murine Pink1 <sup>-/-</sup> embryonal fibroblasts undergoing acute starvation, (4) triggering mitophagy in these cells with trifluoromethoxy carbonylcyanide phenylhydrazone (FCCP), and (5) subjecting them to pathogenic RNA-analogue poly(I:C). 28768533 2017
dbSNP: rs372572360
rs372572360
Entrez Id: 57506
Gene Symbol: MAVS
MAVS
CUI: C4086165
Disease:
Childhood Neuroblastoma
0.010 GeneticVariation BEFREE Marked dysregulations of microbial defense factors Ifit3 and Rsad2 were consistently observed upon five analyses: (1) Pink1 <sup>-/-</sup> primary neurons in the first weeks after brain dissociation, (2) aged Pink1 <sup>-/-</sup> midbrain with transgenic A53T-alpha-synuclein overexpression, (3) human neuroblastoma cells with PINK1-knockdown and murine Pink1 <sup>-/-</sup> embryonal fibroblasts undergoing acute starvation, (4) triggering mitophagy in these cells with trifluoromethoxy carbonylcyanide phenylhydrazone (FCCP), and (5) subjecting them to pathogenic RNA-analogue poly(I:C). 28768533 2017
dbSNP: rs11905552
rs11905552
Entrez Id: 57506
Gene Symbol: MAVS
MAVS
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE ROS-dependent MAVS oligomerization and type I IFN production were reduced in cells expressing the MAVS-C79F variant, which occurs in 30% of sub-Saharan Africans and is linked with reduced type I IFN secretion and milder disease in SLE patients. 27899525 2016
dbSNP: rs17857295
rs17857295
Entrez Id: 57506
Gene Symbol: MAVS
MAVS
CUI: C0027697
Disease:
Nephritis
0.010 GeneticVariation BEFREE While the SNPs, rs17857295 and rs2326369, were found to be associated with the renal nephritis and arthritis of SLE patient, respectively. 21127988 2011
dbSNP: rs2326369
rs2326369
Entrez Id: 57506
Gene Symbol: MAVS
MAVS
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE While the SNPs, rs17857295 and rs2326369, were found to be associated with the renal nephritis and arthritis of SLE patient, respectively. 21127988 2011
dbSNP: rs2326369
rs2326369
Entrez Id: 57506
Gene Symbol: MAVS
MAVS
CUI: C0027697
Disease:
Nephritis
0.010 GeneticVariation BEFREE While the SNPs, rs17857295 and rs2326369, were found to be associated with the renal nephritis and arthritis of SLE patient, respectively. 21127988 2011