Gene: MEFV ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895076
rs104895076
MEFV
0.710 GeneticVariation BEFREE Molecular genetic analysis using whole-exome sequencing suggested the presence of variants c.443A>T:p.E148V and c.442G>C:p.E148Q in the MEFV gene, earlier independently shown to be associated with familial Mediterranean fever (FMF) in a compound heterozygous state. 28211254

2017
dbSNP: rs104895076
rs104895076
MEFV
0.710 GeneticVariation UNIPROT

dbSNP: rs104895079
rs104895079
MEFV
G 0.800 CausalMutation CLINVAR

dbSNP: rs104895079
rs104895079
MEFV
0.800 GeneticVariation UNIPROT

dbSNP: rs104895080
rs104895080
MEFV
0.700 GeneticVariation UNIPROT Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. 25628446

2015
dbSNP: rs104895080
rs104895080
MEFV
0.700 GeneticVariation UNIPROT Evidence-based recommendations for the practical management of Familial Mediterranean Fever. 23742958

2013
dbSNP: rs104895081
rs104895081
MEFV
A 0.810 CausalMutation CLINVAR

dbSNP: rs104895081
rs104895081
MEFV
0.810 GeneticVariation UNIPROT Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. 25628446

2015
dbSNP: rs104895081
rs104895081
MEFV
0.810 GeneticVariation BEFREE Besides four synonymous polymorphisms in exon two and five, we found a T267I mutation in one heterozygous patient with a severe case of FMF who should have been designated as compound heterozygous, yet the other genotypes were all accurate. 20485448

2010
dbSNP: rs104895081
rs104895081
MEFV
0.810 GeneticVariation UNIPROT Evidence-based recommendations for the practical management of Familial Mediterranean Fever. 23742958

2013
dbSNP: rs104895083
rs104895083
MEFV
C 0.800 CausalMutation CLINVAR Genetic screening of familial Mediterranean fever mutations in the Palestinian population. 15951859

2005
dbSNP: rs104895083
rs104895083
MEFV
C 0.800 CausalMutation CLINVAR An improved electronic microarray-based diagnostic assay for identification of MEFV mutations. 15146467

2004
dbSNP: rs104895083
rs104895083
MEFV
C 0.800 CausalMutation CLINVAR Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations. 20485448

2010
dbSNP: rs104895083
rs104895083
MEFV
0.800 GeneticVariation UNIPROT Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. 25628446

2015
dbSNP: rs104895083
rs104895083
MEFV
C 0.800 CausalMutation CLINVAR Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype-phenotype correlation. 19253030

2010
dbSNP: rs104895083
rs104895083
MEFV
C 0.800 CausalMutation CLINVAR Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients. 25393764

2015
dbSNP: rs104895083
rs104895083
MEFV
C 0.800 CausalMutation CLINVAR In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H). 9668175

1998
dbSNP: rs104895083
rs104895083
MEFV
0.800 GeneticVariation UNIPROT Evidence-based recommendations for the practical management of Familial Mediterranean Fever. 23742958

2013
dbSNP: rs104895083
rs104895083
MEFV
C 0.800 CausalMutation CLINVAR MEFV gene mutations spectrum among Lebanese patients referred for Familial Mediterranean Fever work-up: experience of a major tertiary care center. 17566872

2008
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 GeneticVariation CLINVAR An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism. 17665427

2007
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 GeneticVariation CLINVAR Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance. 17938136

2007
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 GeneticVariation CLINVAR Familial Mediterranean fever with a single MEFV mutation: where is the second hit? 19479870

2009
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 GeneticVariation CLINVAR Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease. 23633568

2013
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 CausalMutation CLINVAR "Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a ""heterozygote advantage"" in Turkey?" 21413889

2011
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 GeneticVariation CLINVAR Genetic screening of familial Mediterranean fever mutations in the Palestinian population. 15951859

2005