Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4986790
rs4986790
TLR4
0.030 GeneticVariation BEFREE The allele frequency of the Asp299Gly polymorphism was 5.9% among 879 blood donors, 6.5% among 1047 patients with microbiologically proven meningococcal disease, and 4.1% among 86 patients who died of meningococcal disease. 11494169

2001
dbSNP: rs4986790
rs4986790
TLR4
0.030 GeneticVariation BEFREE We investigated an association between 2 TLR4 mutations (Asp(299)Gly and Thr(399)Ile) and meningococcal disease in 197 patients and 214 healthy controls by allele-specific real time polymerase chain reaction and direct sequencing. 16395111

2006
dbSNP: rs4986790
rs4986790
TLR4
0.030 GeneticVariation BEFREE We could not observe a significant influence of CD14 C-159T and TLR4 Asp299Gly polymorphisms on the risk of developing IMD in surviving meningococcal disease patients. 19809507

2009
dbSNP: rs1065489
rs1065489
CFH
0.010 GeneticVariation BEFREE Theoretical predictions point to a functional effect of rs1065489, which may be directly responsible for protection against MD.</span> 27805046

2016
dbSNP: rs112959008
rs112959008
C5
0.010 GeneticVariation BEFREE In 2012 we reported association between p.A252T and meningococcal disease. 25534848

2015
dbSNP: rs11913168
rs11913168 		0.010 GeneticVariation BEFREE We identified two new polymorphisms, rs4823231 and rs11913168, showing signs of association with meningococcal disease susceptibility. 31061469

2019
dbSNP: rs121909588
rs121909588
C5
0.010 GeneticVariation BEFREE Three different C5 mutations c.55C>T:p.Q19X, c.754G>A:p.A252T and c.4426C>T:p.R1476X were diagnosed in index cases from two families who had both presented with recurrent meningococcal disease. p.Q19X and p.R1476X have already been described in North American Black families and more recently p.Q19X in a Saudi family. 25534848

2015
dbSNP: rs121964921
rs121964921
C7
0.010 GeneticVariation BEFREE The missense mutation G357R would make an interesting topic of analysis with regard to meningococcal disease susceptibility in the Spanish population. 12869030

2003
dbSNP: rs1265538677
rs1265538677
CPB2 ; CPB2-AS1
0.010 GeneticVariation BEFREE Therefore, we studied the prevalence of the Thr325Ile dimorphism in the TAFI gene, which is associated with increased TAFIa stability and activity in 50 patients who survived meningococcal disease, in 176 first-degree relatives of a consecutive patient series with meningococcal disease and 212 controls from the same geographic region. 14717966

2004
dbSNP: rs1965708
rs1965708
SFTPA2
0.010 GeneticVariation BEFREE Gene polymorphism resulting in the substitution of glutamine with lysine at residue 223 in the carbohydrate recognition domain of SP-A2 increases susceptibility to meningococcal disease, as well as the risk of death. 17083016

2006
dbSNP: rs370867162
rs370867162
MBL2
0.010 GeneticVariation BEFREE Genetic variants associated with severity of meningococcal disease, including the IgG Fc receptor (FCγRII)-A484T, interleukin-10 (IL-10)-A1082G, -C819T, and -C627A, IL-4-C589T, mannose binding lectin-2 (MBL2)-A/O, -H/L, -P/Q, and -X/Y, toll-like receptor 2 (TLR2)-G2408A, TLR4-A12874G and -C13174T, and TLR9-T1237C and -T1486C were determined by real-time PCR (RT-PCR) for 271 HIV-infected subjects (median, 17 years). 23595505

2013
dbSNP: rs397728201
rs397728201
SFTPA1
0.010 GeneticVariation BEFREE Gene polymorphism resulting in the substitution of glutamine with lysine at residue 223 in the carbohydrate recognition domain of SP-A2 increases susceptibility to meningococcal disease, as well as the risk of death. 17083016

2006
dbSNP: rs4823231
rs4823231
ATXN10
0.010 GeneticVariation BEFREE We identified two new polymorphisms, rs4823231 and rs11913168, showing signs of association with meningococcal disease susceptibility. 31061469

2019
dbSNP: rs4986791
rs4986791
TLR4
0.010 GeneticVariation BEFREE We investigated an association between 2 TLR4 mutations (Asp(299)Gly and Thr(399)Ile) and meningococcal disease in 197 patients and 214 healthy controls by allele-specific real time polymerase chain reaction and direct sequencing. 16395111

2006
dbSNP: rs749495848
rs749495848
TLR4
0.010 GeneticVariation BEFREE Genetic variants associated with severity of meningococcal disease, including the IgG Fc receptor (FCγRII)-A484T, interleukin-10 (IL-10)-A1082G, -C819T, and -C627A, IL-4-C589T, mannose binding lectin-2 (MBL2)-A/O, -H/L, -P/Q, and -X/Y, toll-like receptor 2 (TLR2)-G2408A, TLR4-A12874G and -C13174T, and TLR9-T1237C and -T1486C were determined by real-time PCR (RT-PCR) for 271 HIV-infected subjects (median, 17 years). 23595505

2013
dbSNP: rs780935825
rs780935825
TLR4
0.010 GeneticVariation BEFREE Genetic variants associated with severity of meningococcal disease, including the IgG Fc receptor (FCγRII)-A484T, interleukin-10 (IL-10)-A1082G, -C819T, and -C627A, IL-4-C589T, mannose binding lectin-2 (MBL2)-A/O, -H/L, -P/Q, and -X/Y, toll-like receptor 2 (TLR2)-G2408A, TLR4-A12874G and -C13174T, and TLR9-T1237C and -T1486C were determined by real-time PCR (RT-PCR) for 271 HIV-infected subjects (median, 17 years). 23595505

2013
dbSNP: rs426736
rs426736
CFHR3
0.800 GeneticVariation GWASCAT Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. 20694013

2010
dbSNP: rs426736
rs426736
CFHR3
0.800 GeneticVariation GWASDB Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. 20694013

2010
dbSNP: rs10749071
rs10749071 		0.700 GeneticVariation GWASDB Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. 20694013

2010
dbSNP: rs10838427
rs10838427
PRDM11
0.700 GeneticVariation GWASDB Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. 20694013

2010
dbSNP: rs11728925
rs11728925 		0.700 GeneticVariation GWASDB Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. 20694013

2010
dbSNP: rs1299491
rs1299491
NUP62 ; IL4I1
0.700 GeneticVariation GWASDB Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. 20694013

2010
dbSNP: rs13070790
rs13070790
ALCAM
0.700 GeneticVariation GWASDB Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. 20694013

2010
dbSNP: rs1749824
rs1749824
ZMIZ1
0.700 GeneticVariation GWASDB Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. 20694013

2010
dbSNP: rs1792624
rs1792624 		0.700 GeneticVariation GWASDB Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. 20694013

2010