Gene: MEFV ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895079
rs104895079
MEFV
G 0.800 CausalMutation CLINVAR

dbSNP: rs104895081
rs104895081
MEFV
A 0.810 CausalMutation CLINVAR

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 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
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 An improved electronic microarray-based diagnostic assay for identification of MEFV mutations. 15146467

2004
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
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 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 Genotype-phenotype and genotype-origin correlations in children with mediterranean fever in Germany - an AID-net study. 24158885

2013
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 CausalMutation CLINVAR Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic. 26620106

2016
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 GeneticVariation CLINVAR Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations. 16378925

2006
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 GeneticVariation CLINVAR Genetic screening of familial Mediterranean fever mutations in the Palestinian population. 15951859

2005
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 CausalMutation CLINVAR Genotype-phenotype and genotype-origin correlations in children with mediterranean fever in Germany - an AID-net study. 24158885

2013
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 Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey. 24469716

2014
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 GeneticVariation 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 Familial Mediterranean fever with a single MEFV mutation: where is the second hit? 19479870

2009
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 GeneticVariation CLINVAR Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states. 11242116

2001
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 GeneticVariation CLINVAR Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic. 26620106

2016
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 GeneticVariation CLINVAR Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease. 11470495

2001
dbSNP: rs104895085
rs104895085
MEFV
T 0.800 CausalMutation CLINVAR Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease. 11470495

2001
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 Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease. 23633568

2013