|
rs1057518827
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1057518886
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1554785242
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1554791280
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1555889984
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1567608853
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs200956636
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs62641689
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs72554640
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs864309530
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs61752717
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Fever and peritonitis are the most frequent signs of homozygous M694V and combine heterozygous mutations.
|
26215181 |
2016 |
|
rs35829419
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A 15-year-old patient with double heterozygosity for the mutations 1129G>A and 928G>A in MVK gene, heterozygosity for the mutation 2107C>A in CIAS1 gene and hyper-IgD syndrome phenotype, has been treated with anakinra with a reduction of 50% in the number of fever episodes per month, a reduction of 33% in the days of fever for each attack and normal blood tests in the intercritical phase.
|
28638818 |
2017 |
|
rs1064797245
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever.
|
29066118 |
2018 |
|
rs781431904
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A patient homozygous for the ETFbeta-D128N mutation developed severe disease symptoms in association with a viral infection and fever.
|
19088074 |
2009 |
|
rs766778566
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A rare, c.1955G>A, p.Arg652His MEFV gene variant was identified at negligible levels in an early peripheral blood DNA sample, but affected 46 % of the MEFV alleles and was restricted to JAK2-positive, polymorphonuclear and CD3-depleted mononunuclear DNA samples obtained 4 years later, when the patient experienced fever bouts.
|
26123310 |
2015 |
|
rs1204135596
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A rare, c.1955G>A, p.Arg652His MEFV gene variant was identified at negligible levels in an early peripheral blood DNA sample, but affected 46 % of the MEFV alleles and was restricted to JAK2-positive, polymorphonuclear and CD3-depleted mononunuclear DNA samples obtained 4 years later, when the patient experienced fever bouts.
|
26123310 |
2015 |
|
rs766778566
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A rare, c.1955G>A, p.Arg652His MEFV gene variant was identified at negligible levels in an early peripheral blood DNA sample, but affected 46 % of the MEFV alleles and was restricted to JAK2-positive, polymorphonuclear and CD3-depleted mononunuclear DNA samples obtained 4 years later, when the patient experienced fever bouts.
|
26123310 |
2015 |
|
rs61752717
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A Turkish patient with episodic fever and thoracic pain is described in whom a homozygous M694V mutation of the MEFV gene confirmed the clinical diagnosis of familial Mediterranean fever.
|
10667038 |
2000 |
|
rs7849782
|
|
|
0.010 |
GeneticVariation |
BEFREE |
According to univariate regression analysis, CAA formation in KD was significantly associated with fever duration (p < 0.0001), first Intravenous immunoglobulin (IVIG) used (days after day one of fever) (p < 0.0001), and the GRIN3A (rs7849782) genetic variant (p < 0.001).
|
24278430 |
2013 |
|
rs3804100
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As the inflammatory responses in ALN patients are more severe than those in APN patients (higher CRP levels, longer duration of fever after antibiotic treatment), these findings suggest that the genetic variant in TLR-2 (rs3804100, T1350C) may protect the host from severe urinary tract infections as ALN.
|
23484049 |
2013 |
|
rs747753882
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As the inflammatory responses in ALN patients are more severe than those in APN patients (higher CRP levels, longer duration of fever after antibiotic treatment), these findings suggest that the genetic variant in TLR-2 (rs3804100, T1350C) may protect the host from severe urinary tract infections as ALN.
|
23484049 |
2013 |
|
rs118192161
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Considering that many MH symptoms resemble those that could ensue from a mitochondrial dysfunction (e.g. metabolic acidosis and hyperthermia) and that MH-susceptible mice or humans have a higher than normal cytoplasmic Ca(2+) concentration at rest, we evaluated the role of mitochondria in skeletal muscle from R163C compared with wild type mice under basal (untriggered) conditions.
|
20978128 |
2011 |
|
rs3832879
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Each patient underwent evaluation of serum FGF23 levels and FGF23 genotype: the frequency of the c.212-37insC (rs3832879) polymorphism in intron 1 was examined and compared with sex, age at disease onset, fever duration, laboratory data, and occurrence of CaA.
|
24168888 |
2013 |
|
rs41550816
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Evaluation of a recombinant double mutant of staphylococcal enterotoxin B (SEB-H32Q/K173E) with enhanced antitumor activity effects and decreased pyrexia.
|
23405232 |
2013 |
|
rs755789256
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Evaluation of a recombinant double mutant of staphylococcal enterotoxin B (SEB-H32Q/K173E) with enhanced antitumor activity effects and decreased pyrexia.
|
23405232 |
2013 |