rs28940579
|
|
G |
0.900 |
GeneticVariation |
CLINVAR |
Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.
|
27659338 |
2016 |
rs28940579
|
|
G |
0.900 |
GeneticVariation |
CLINVAR |
Evidence of digenic inheritance in autoinflammation-associated genes.
|
27994174 |
2016 |
rs28940579
|
|
G |
0.900 |
GeneticVariation |
CLINVAR |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
|
23907647 |
2014 |
rs28940579
|
|
G |
0.900 |
GeneticVariation |
CLINVAR |
The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.
|
16785446 |
2006 |
rs28940579
|
|
G |
0.900 |
GeneticVariation |
CLINVAR |
Frequency of mutations in Mediterranean fever gene, with gender and genotype-phenotype correlations in a Turkish population.
|
26690517 |
2015 |
rs28940579
|
|
G |
0.900 |
GeneticVariation |
CLINVAR |
Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients.
|
25393764 |
2015 |
rs61752717
|
|
C |
0.900 |
GeneticVariation |
CLINVAR |
FMF patients heterozygous for E148Q mutation, heterozygous for M694I mutation, or combined heterozygous for E148Q and M694I mutations, which were found to be major mutations in an FMF study group in Japan, suffer from arthritis, the severity of which is likely to be lower than in FMF patients with M694V mutations.
|
24318677 |
2014 |
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 |
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 |
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 |
rs104895097
|
|
T |
0.850 |
GeneticVariation |
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 |
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 |
rs104895097
|
|
T |
0.850 |
GeneticVariation |
CLINVAR |
Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients.
|
25393764 |
2015 |
rs104895097
|
|
T |
0.850 |
GeneticVariation |
CLINVAR |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
|
23907647 |
2014 |
rs104895097
|
|
T |
0.850 |
GeneticVariation |
CLINVAR |
Simple markers for subclinical inflammation in patients with Familial Mediterranean Fever.
|
25615955 |
2015 |
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 |
rs104895097
|
|
T |
0.850 |
GeneticVariation |
CLINVAR |
FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis.
|
26351556 |
2015 |
rs61732874
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
Renal amyloidosis due to familial mediterranean fever misdiagnosed.
|
23716950 |
2012 |
rs61732874
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
"The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination ""hot-spot"" at the MEFV locus."
|
15024744 |
2004 |
rs61732874
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
Revisiting the morbid genome of Mendelian disorders.
|
27884173 |
2016 |
rs61732874
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study.
|
19934083 |
2010 |
rs61732874
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
Familial Mediterranean fever in Ashkenazi Jews: the mild end of the clinical spectrum.
|
20008924 |
2010 |
rs61732874
|
|
A |
0.820 |
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 |
rs61732874
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.
|
19863562 |
2009 |
rs61732874
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey.
|
19449169 |
2010 |