Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895097
rs104895097
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
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: rs104895097
rs104895097
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
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
T 0.850 CausalMutation CLINVAR Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients. 25393764

2015

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

2015

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

2015

dbSNP: rs104895097
rs104895097
T 0.850 GeneticVariation CLINVAR FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis. 26351556

2015

dbSNP: rs104895097
rs104895097
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

dbSNP: rs104895097
rs104895097
T 0.850 CausalMutation CLINVAR Patient management and the association of less common familial Mediterranean fever symptoms with other disorders. 23907647

2014

dbSNP: rs104895097
rs104895097
T 0.850 GeneticVariation CLINVAR Patient management and the association of less common familial Mediterranean fever symptoms with other disorders. 23907647

2014

dbSNP: rs104895097
rs104895097
T 0.850 CausalMutation CLINVAR The frequencies of independent alleles, with decreasing order, were E148Q (30.7 %), M694V (26.0 %), R761H (13.5 %), V726A (13.0 %), P369S (10.5 %) and M680I (6.3 %) in FMF patients. 24071932

2014

dbSNP: rs104895097
rs104895097
T 0.850 GeneticVariation CLINVAR The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA. 23038988

2013

dbSNP: rs104895097
rs104895097
T 0.850 GeneticVariation CLINVAR Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey. 23031807

2012

dbSNP: rs104895097
rs104895097
T 0.850 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: rs104895097
rs104895097
T 0.850 CausalMutation CLINVAR MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey. 19449169

2010

dbSNP: rs104895097
rs104895097
T 0.850 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: rs104895097
rs104895097
T 0.850 CausalMutation CLINVAR The p.R761H mutation is rather prevalent in Azeri Turks; therefore, it should be included in the routine molecular diagnosis of FMF patients from this ethnic group. 19863562

2009

dbSNP: rs104895097
rs104895097
T 0.850 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: rs104895097
rs104895097
T 0.850 GeneticVariation 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: rs104895097
rs104895097
T 0.850 CausalMutation CLINVAR Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation. 16627024

2007

dbSNP: rs104895097
rs104895097
T 0.850 CausalMutation CLINVAR Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations. 16378925

2006

dbSNP: rs104895097
rs104895097
T 0.850 CausalMutation CLINVAR Genetic screening of familial Mediterranean fever mutations in the Palestinian population. 15951859

2005

dbSNP: rs104895097
rs104895097
T 0.850 CausalMutation CLINVAR MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever. 10612841

2000