Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752717
rs61752717
0.030 GeneticVariation BEFREE The most common MEFV (MEditerranean FeVer) mutation was M694V in FMF patients. 28980897

2018

dbSNP: rs61752717
rs61752717
0.030 GeneticVariation BEFREE The present study indicates that the MEFV M694V mutation may contribute to the pathogenesis of AS. 28800602

2017

dbSNP: rs61752717
rs61752717
0.030 GeneticVariation BEFREE The meta-analysis confirmed that MEFV mutations M694V and M680I were associated with BD. 26176758

2015

dbSNP: rs11466023
rs11466023
0.020 GeneticVariation BEFREE The aim of this study was to explore the genetic association of Mediterranean fever (MEFV) gene polymorphisms rs3743930 and rs11466023 with ankylosing spondylitis (AS) susceptibility in a cohort of Chinese Han population.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping MEFV polymorphisms in 131 AS patients and 127 healthy controls. 30557972

2018

dbSNP: rs3743930
rs3743930
0.020 GeneticVariation BEFREE Odds ratio (OR) with 95% confidence interval (CI) was calculated to assess the association between MEFV gene polymorphisms and AS incidence.The frequency of the G allele of MEFV polymorphism rs3743930 in the AS group was significantly higher than that in the healthy control group (36.64% vs 28.35%, P < .05). 30557972

2018

dbSNP: rs11466023
rs11466023
0.020 GeneticVariation BEFREE Additionally the previously reported heterozygous MEFV variants (P369S-R408Q or E148Q-P369S-R408Q) were also detected in both patients. 23015306

2013

dbSNP: rs3743930
rs3743930
0.020 GeneticVariation BEFREE Genetic analysis was done and heterozygous mutation E148Q was detected as a disease-causing Mediterranean fever (MEFV) mutation. 21210266

2011

dbSNP: rs224224
rs224224
0.010 GeneticVariation BEFREE In our study, we aimed to determine the frequency of the MEFV mutations in our region and to investigate the impact of G138G (rs224224, c.414A>G) and A165A (rs224223, c.495C>A) gene polymorphisms on the clinical findings of the disease. 29173686

2019

dbSNP: rs28940580
rs28940580
0.010 GeneticVariation BEFREE The meta-analysis confirmed that MEFV mutations M694V and M680I were associated with BD. 26176758

2015

dbSNP: rs11466024
rs11466024
0.010 GeneticVariation BEFREE Additionally the previously reported heterozygous MEFV variants (P369S-R408Q or E148Q-P369S-R408Q) were also detected in both patients. 23015306

2013

dbSNP: rs224222
rs224222
0.010 GeneticVariation BEFREE While 13 of the 44 FMS patients with MEFV mutation had R202Q polymorphism, none of the 22 controls with MEFV mutation had R202Q polymorphism. 23010357

2012