Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE Recurrent abdominal pain and arthritis/arthralgia were commonly observed in patients with M694V and R202Q mutations. 30284126

2019

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE M694V genotype seems to be more frequently associated with arthritis as well as with chronic arthritis than other genotypes. 28828621

2018

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE The presence of M694V was found to be associated with more severe course of FMF, earlier age of onset and more frequent arthritis in the Syrian children with FMF compared to other FMF patients who do not have this mutation. 25150514

2015

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE 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

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE Arthritis patterns in familial Mediterranean fever patients and association with M694V mutation. 20845072

2011

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE Significant increase in abdominal pain and arthritis was found in patients with homozygote M694V mutation compared to those with E148Q mutation. 19777236

2010

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE Fever and arthritis were determined in similar ratios to other genotypes (76% and 19%, respectively) in the M694V/M694V genotype (74% and 29%, respectively) (p > 0.50 and p > 0.20, respectively). 20373849

2010

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE The age of disease onset was earlier, and arthritis and ELE were more frequent, and DSS was higher in patients with M694V/M694V mutation. 19641922

2010

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE Arthralgia or arthritis was significantly higher in M694V carriers than in non-M694V carriers (p < 0.05). 18300119

2008

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE The homozygosity of M694V mutation in the MEFV gene is associated with arthritis in FMF patients. 14727057

2005

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE Logistic regression analysis showed that homozygosity for the M694V allele (odds ratio [OR] 4.27, 95% confidence interval [95% CI] 2.01-9.07), the presence of the SAAalpha/alpha genotype (OR 2.99, 95% CI 1.47-6.09), the occurrence of arthritis attacks (OR 2.43, 95% CI 1.17-5.06), and male sex (OR 1.73, 95% CI 0.90-3.33) were significantly and independently associated with renal amyloidosis. 12687559

2003

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE Children homozygous for the M694V mutation presented at a younger age, had a higher severity score, and more commonly had arthritis. 12508410

2003

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE The M694V homozygous genotype was found to be associated with a higher prevalence of renal amyloidosis and arthritis, compared with other genotypes (P=.0002 and P=.006, respectively). 10364520

1999

dbSNP: rs61752717
rs61752717
0.100 GeneticVariation BEFREE The presence of a homozygous M694V mutation was significantly associated with a more severe form of the disease: the clinical onset of the disease manifested at an earlier age; the number of attacks per month was higher; the global assessment by the treating physician and the severity of pain scored higher; and arthritis was more frequent. 10224214

1999