Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518827
rs1057518827
NLRP3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518886
rs1057518886
HMBS
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554785242
rs1554785242
ADAMTS13
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554791280
rs1554791280
ADAMTS13
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555889984
rs1555889984
RUNX1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1567608853
rs1567608853
CYBA
C 0.700 CausalMutation CLINVAR

dbSNP: rs200956636
rs200956636
RAB27A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs62641689
rs62641689
HCN4
T 0.700 GeneticVariation CLINVAR

dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
T 0.700 CausalMutation CLINVAR

dbSNP: rs864309530
rs864309530
LYST
T 0.700 GeneticVariation CLINVAR

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

2016
dbSNP: rs61752717
rs61752717
MEFV
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
MEFV
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: 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: 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: rs2229291
rs2229291
CPT2
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
CPT2
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: rs12939622
rs12939622
DDX52
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: rs4262994
rs4262994
SYNRG
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: rs28940580
rs28940580
MEFV
0.010 GeneticVariation BEFREE Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of FMF (recurrent attacks of fever, arthralgia and arthritis, abdominal pain, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with arthralgia and abdominal pain. 31443670

2019
dbSNP: rs1064797245
rs1064797245
ATP1A3
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: rs137854601
rs137854601
SCN5A
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: rs1055229
rs1055229
LINC01857
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: rs121918622
rs121918622
SCN1A ; SCN1A-AS1 ; LOC102724058
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
LINC01857
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