Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752717
rs61752717
0.030 GeneticVariation BEFREE New phenotype-genotype correlations emerged from our study: homozygosity for the M694V mutation was associated with intensity of fever, splenomegaly and with erysipelas-like erythema. 11085810

2000

dbSNP: rs61752717
rs61752717
0.030 GeneticVariation BEFREE Fever and peritonitis are the most frequent signs of homozygous M694V and combine heterozygous mutations. 26215181

2016

dbSNP: rs61752717
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

dbSNP: rs2229291
rs2229291
0.020 GeneticVariation BEFREE The F352C variant results in energy crisis at high temperature and is suspected as a risk factor for acute encephalopathy. 23969168

2014

dbSNP: rs2229291
rs2229291
0.020 GeneticVariation BEFREE Positive association was found between rs2</span>229291 and patients with fever</span> at onset of seizure and degree of pathogenetic condition (P = 0.018 and P = 0.023), but not for rs1799821. 25361188

2014

dbSNP: rs28934897
rs28934897
MVK
0.020 GeneticVariation BEFREE Her 19-year old brother presented since the age of 1 year with prolonged episodes of fever and was diagnosed with HIDS at the age of 7 years based on clinical features and homozygosity for p.V377I mutation in MVK. 25708585

2015

dbSNP: rs28934897
rs28934897
MVK
0.020 GeneticVariation BEFREE Hyper-IgD and periodic fever syndrome (HIDS) due to compound heterozygosity for G336S and V377I in a 44-year-old patient with a 27-year history of fever. 27899390

2016

dbSNP: rs1045642
rs1045642
0.010 GeneticVariation BEFREE We found that patients carrying the CYP3A5*1/*3 genotype demonstrated more side effects of fever, pleural effusion, and febrile neutropenia than those with the CYP3A5*3/*3 genotype (p = 0.075, 0.077, and 0.030, respectively); moreover, patients with the ABCB1 2677G/G genotype also showed more side effects of fever and febrile neutropenia than those with other genotypes (p = 0.024 and 0.027), In regard to ABCB1 3435C>T, patients with ABCB1 3435C/C tended to suffer leucopenia (p = 0.057). 19332043

2009

dbSNP: rs104895271
rs104895271
0.010 GeneticVariation BEFREE The D12E substitution has been described only once to date, in a 4-year-old boy with fever. 23322460

2013

dbSNP: rs104895358
rs104895358
MVK
0.010 GeneticVariation BEFREE Hyper-IgD and periodic fever syndrome (HIDS) due to compound heterozygosity for G336S and V377I in a 44-year-old patient with a 27-year history of fever. 27899390

2016

dbSNP: rs1051266
rs1051266
0.010 GeneticVariation BEFREE Our findings suggested that the risk of NTDs was potentially influenced by a gene-environment interaction between maternal SLC19A1 rs1051266 GG/GA genotype and first trimester fever. 24917213

2015

dbSNP: rs1055229
rs1055229
0.010 GeneticVariation BEFREE Furthermore, patients with the CC genotype of rs12477677 were correlated with fewer occurrences of fever (p = 0.016), while patients carrying the T allele were associated with lower levels of ESR in the dominant model of rs1055229 (p = 0.021). 28424495

2017

dbSNP: rs1064797245
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

dbSNP: rs11568658
rs11568658
0.010 GeneticVariation BEFREE The ABCC4 single nucleotide polymorphism rs11568658 was associated with misoprostol-induced fever. 26122863

2015

dbSNP: rs11575933
rs11575933
0.010 GeneticVariation BEFREE This explains the higher susceptibility of the enzymatic activity of MDTCS-P475S to reaction environments such as denaturants and high temperature. 23621748

2013

dbSNP: rs118192161
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

dbSNP: rs1187636039
rs1187636039
0.010 GeneticVariation BEFREE In the family assessed, the p.D294E mutation segregated in association with a particular sensitivity to cold exposure (especially arthralgias and myalgia), but not always with an inflammatory phenotype (e.g., urticarial rash or fever). 21360512

2011

dbSNP: rs1204135596
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

dbSNP: rs121917748
rs121917748
0.010 GeneticVariation BEFREE The voltage-gated sodium channel type II alpha polypeptide gene (SCN2A) R188W mutation with channel dysfunction was recently identified in a patient with febrile and afebrile seizures. 12165424

2002

dbSNP: rs121918622
rs121918622
0.010 GeneticVariation BEFREE To test this hypothesis, we subjected 21-23-day-old mice expressing the human SCN1A GEFS+ mutation R1648H to prolonged hyperthermia, and then examined seizure and behavioral phenotypes during adulthood. 28373025

2017

dbSNP: rs12477677
rs12477677
0.010 GeneticVariation BEFREE Furthermore, patients with the CC genotype of rs12477677 were correlated with fewer occurrences of fever (p = 0.016), while patients carrying the T allele were associated with lower levels of ESR in the dominant model of rs1055229 (p = 0.021). 28424495

2017

dbSNP: rs12939622
rs12939622
0.010 GeneticVariation BEFREE The AA genotype of rs12939622 (in the dominant model) and the AA genotype of rs4262994 (in the recessive model) caused increased susceptibility of the subjects to fever (P < .001 and P = .008, respectively). 31692082

2020

dbSNP: rs137854601
rs137854601
0.010 GeneticVariation BEFREE In this study, we tested the effects of Ranolazine, the late I<sub>Na</sub> blocker, on voltage-dependent and kinetic properties of E1784K at elevated temperature and cytosolic calcium. 29483621

2018

dbSNP: rs1424748509
rs1424748509
0.010 GeneticVariation BEFREE Reported TNFRSF1A gene mutations in these nine index patients were C70S, T61I, C70G, C30Y, C30R, N101K, and N25D.Fever (100 %) was seen in all 23 cases. 22918594

2013

dbSNP: rs147080557
rs147080557
0.010 GeneticVariation BEFREE In the family assessed, the p.D294E mutation segregated in association with a particular sensitivity to cold exposure (especially arthralgias and myalgia), but not always with an inflammatory phenotype (e.g., urticarial rash or fever). 21360512

2011