Gene: MEFV ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 GeneticVariation CLINVAR R202Q/M694V as novel MEFV gene mutations in chronic periodontitis and familial Mediterranean fever. 28590056

2017
dbSNP: rs104895091
rs104895091
MEFV
T 0.700 CausalMutation CLINVAR Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration. 27150194

2017
dbSNP: rs28940579
rs28940579
MEFV
G 0.900 GeneticVariation CLINVAR Evidence of digenic inheritance in autoinflammation-associated genes. 27994174

2016
dbSNP: rs28940579
rs28940579
MEFV
G 0.900 GeneticVariation CLINVAR Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations. 27659338

2016
dbSNP: rs28940580
rs28940580
MEFV
T 0.890 CausalMutation CLINVAR Bone Mineral Density in Egyptian Children with Familial Mediterranean Fever. 26722138

2016
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 CausalMutation CLINVAR Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations. 27659338

2016
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 CausalMutation CLINVAR Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran. 27980538

2016
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 GeneticVariation CLINVAR Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran. 27980538

2016
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 CausalMutation CLINVAR Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case-control study. 27621632

2016
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 GeneticVariation CLINVAR Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations. 27659338

2016
dbSNP: rs61732874
rs61732874
MEFV
A 0.820 GeneticVariation CLINVAR Revisiting the morbid genome of Mendelian disorders. 27884173

2016
dbSNP: rs104895094
rs104895094
MEFV
C 0.810 CausalMutation CLINVAR The role of MEFV mutations in the concurrent disorders observed in patients with familial Mediterranean fever. 27733942

2016
dbSNP: rs104895094
rs104895094
MEFV
C 0.810 CausalMutation CLINVAR Distribution of MEFV gene mutations and R202Q polymorphism in the Serbian population and their influence on oxidative stress and clinical manifestations of inflammation. 27364639

2016
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 Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic. 26620106

2016
dbSNP: rs104895091
rs104895091
MEFV
T 0.700 CausalMutation CLINVAR Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment. 25760918

2016
dbSNP: rs28940579
rs28940579
MEFV
G 0.900 GeneticVariation CLINVAR Frequency of mutations in Mediterranean fever gene, with gender and genotype-phenotype correlations in a Turkish population. 26690517

2015
dbSNP: rs28940579
rs28940579
MEFV
G 0.900 GeneticVariation CLINVAR Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients. 25393764

2015
dbSNP: rs28940580
rs28940580
MEFV
T 0.890 CausalMutation CLINVAR Familial Mediterranean Fever in Iran: A Report from FMF Registration Center. 26413094

2015
dbSNP: rs28940580
rs28940580
MEFV
T 0.890 CausalMutation CLINVAR Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever. 26759267

2015
dbSNP: rs28940580
rs28940580
MEFV
T 0.890 CausalMutation CLINVAR MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever. 25648235

2015
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 CausalMutation CLINVAR Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients. 25393764

2015
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 GeneticVariation CLINVAR Simple markers for subclinical inflammation in patients with Familial Mediterranean Fever. 25615955

2015
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 CausalMutation CLINVAR In the northwest of Iran (Ardabil), 216 patients with FMF diagnosis, based on Tel-Hashomer criteria, referred to the genetic laboratory to be tested for the following mutations; P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q. 25648235

2015
dbSNP: rs104895097
rs104895097
MEFV
T 0.850 CausalMutation CLINVAR The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T). 25703702

2015