Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752717
rs61752717
MEFV
0.100 GeneticVariation BEFREE The presence of the Met694Val mutation was not found to be associated with a severe form of the disease or the development of amyloidosis. 10662876

2000
dbSNP: rs61752717
rs61752717
MEFV
0.100 GeneticVariation BEFREE Only patients with the M694V mutation had a family history of amyloidosis. 10224214

1999
dbSNP: rs61752717
rs61752717
MEFV
0.100 GeneticVariation BEFREE A significant association was found between amyloidosis and the specific mutation at the MEFV gene: Met694Val (RR = 1.41, P = 0.02). 10234504

1999
dbSNP: rs61752717
rs61752717
MEFV
0.100 GeneticVariation BEFREE Specifically, the data from our American series are insufficient to evaluate the hypothesis that the M694V/M694V genotype confers a more severe phenotype, or increases the risk of amyloidosis; but both our data and the recent literature (160) indicate that amyloidosis can occur in FMF patients with only 1 copy, or no copies, of the M694V mutation. 9715731

1998