Gene: MEFV ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519328
rs1057519328
MEFV
C 0.700 CausalMutation CLINVAR

dbSNP: rs751454741
rs751454741
MEFV
T 0.700 CausalMutation CLINVAR

dbSNP: rs755659290
rs755659290
MEFV
C 0.700 CausalMutation CLINVAR

dbSNP: rs3743930
rs3743930
MEFV
0.050 GeneticVariation BEFREE The third mutation, E148Q, however, was not found to be linked with BD (pooled OR: 1.26, 95% CI: 0.69-2.31). 26176758

2015
dbSNP: rs3743930
rs3743930
MEFV
0.050 GeneticVariation BEFREE The frequencies of E148Q and M680I mutations were significantly higher in the BD group (p=0.001, p=0.046, respectively). 23973724

2013
dbSNP: rs3743930
rs3743930
MEFV
0.050 GeneticVariation BEFREE Fifty-three BD patients who met the International Study Group criteria for BD were analysed for five common MEFV mutations (M694V, V726A, M680I, M694I, and E148Q) using amplification refractory mutation system and polymerase chain reaction (PCR) restriction-digestion testing methods. 21623663

2011
dbSNP: rs3743930
rs3743930
MEFV
0.050 GeneticVariation BEFREE All BD patients were genotyped using polymerase chain reaction (PCR) and restriction enzyme analysis for the three most common MEFV mutations (M694V, V726A, and E148Q). 17454935

2007
dbSNP: rs3743930
rs3743930
MEFV
0.050 GeneticVariation BEFREE The M694V, V726A and E148Q mutations tended to be more frequent in definite BD (2.6%, 2.6%, and 5.2%, respectively) than in controls (0%, 0%, and 2.2%). 10980540

2000
dbSNP: rs61752717
rs61752717
MEFV
0.040 GeneticVariation BEFREE The meta-analysis confirmed that MEFV mutations M694V and M680I were associated with BD. 26176758

2015
dbSNP: rs61752717
rs61752717
MEFV
0.040 GeneticVariation BEFREE Furthermore, carriage of the familial Mediterranean fever gene (MEFV) mutation Met694Val, which is known to cause recessively inherited familial Mediterranean fever, conferred BD risk in the Turkish population (OR, 2.65; P = 1.8 × 10(-12)). 23633568

2013
dbSNP: rs61752717
rs61752717
MEFV
0.040 GeneticVariation BEFREE Fifty-three BD patients who met the International Study Group criteria for BD were analysed for five common MEFV mutations (M694V, V726A, M680I, M694I, and E148Q) using amplification refractory mutation system and polymerase chain reaction (PCR) restriction-digestion testing methods. 21623663

2011
dbSNP: rs61752717
rs61752717
MEFV
0.040 GeneticVariation BEFREE The M694V, V726A and E148Q mutations tended to be more frequent in definite BD (2.6%, 2.6%, and 5.2%, respectively) than in controls (0%, 0%, and 2.2%). 10980540

2000
dbSNP: rs28940580
rs28940580
MEFV
0.020 GeneticVariation BEFREE The meta-analysis confirmed that MEFV mutations M694V and M680I were associated with BD. 26176758

2015
dbSNP: rs28940580
rs28940580
MEFV
0.020 GeneticVariation BEFREE The frequencies of E148Q and M680I mutations were significantly higher in the BD group (p=0.001, p=0.046, respectively). 23973724

2013
dbSNP: rs28940579
rs28940579
MEFV
0.020 GeneticVariation BEFREE The frequencies of three FMF-related MEFV mutations (M694V, M680I and V726A) were investigated in BD patients (n = 57) by molecular genetic studies using a polymerase chain reaction with the ARMS method. 14727457

2004
dbSNP: rs28940579
rs28940579
MEFV
0.020 GeneticVariation BEFREE The M694V, V726A and E148Q mutations tended to be more frequent in definite BD (2.6%, 2.6%, and 5.2%, respectively) than in controls (0%, 0%, and 2.2%). 10980540

2000
dbSNP: rs104895083
rs104895083
MEFV
0.010 GeneticVariation BEFREE The mutations A744S, P369S, R408Q, and F479L were reported for the first time in BD patients. 18609258

2008
dbSNP: rs104895094
rs104895094
MEFV
0.010 GeneticVariation BEFREE The heterozygous MEFV mutation (K695R) was found in one (2%) BD patient. 16273767

2006