Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752717
rs61752717
MEFV
0.030 GeneticVariation BEFREE MEFV mutation was M694V homozygous or compound heterozygous in 52%, and simple heterozygous in 18%.Six patients had AA amyloidosis. 27838405

2017
dbSNP: rs61752717
rs61752717
MEFV
0.030 GeneticVariation BEFREE The M694V homo</span>zygosity and heterozygosity were associated with increased risk of AA amyloidosis, but this association did not reach statistical significance (odds ratio 2.43; 95 % CI 0.87-6.76, and 3.33; 0.91-12.1, respectively). 25586652

2015
dbSNP: rs61752717
rs61752717
MEFV
0.030 GeneticVariation BEFREE MEFV mutations are found to be increased both in FMF and non-FMF associated secondary amyloidosis in our study; however, no clear association between M694V and amyloidosis is observed, except in the non-FMF group. 15122067

2004
dbSNP: rs28940578
rs28940578
MEFV
0.020 GeneticVariation BEFREE The M694I/M694I genotype: A genetic risk factor of AA-amyloidosis in a group of Algerian patients with familial Mediterranean fever. 27956278

2017
dbSNP: rs28940578
rs28940578
MEFV
0.020 GeneticVariation BEFREE Amyloid A amyloidosis in a Japanese patient with familial Mediterranean fever associated with homozygosity for the pyrin variant M694I/M694I. 24593212

2014
dbSNP: rs5743708
rs5743708
TLR2
0.020 GeneticVariation BEFREE Neither myeloid cell TLR-2 and TLR-4 expressions nor TLR-2 Arg753Gln, TLR-4 Asp299Gly, and Thr399Ile polymorphisms seem to affect the development of secondary amyloidosis in FMF patients in our study population. 20714796

2011
dbSNP: rs5743708
rs5743708
TLR2
0.020 GeneticVariation BEFREE We investigated whether the Arg753Gln TLR2 polymorphism affected the development of secondary amyloidosis in patients with FMF. 17013994

2006
dbSNP: rs224222
rs224222
MEFV
0.010 GeneticVariation BEFREE R202Q may be important in patients with FMF-associated AA amyloidosis. 27225717

2016
dbSNP: rs4986790
rs4986790
TLR4
0.010 GeneticVariation BEFREE Neither myeloid cell TLR-2 and TLR-4 expressions nor TLR-2 Arg753Gln, TLR-4 Asp299Gly, and Thr399Ile polymorphisms seem to affect the development of secondary amyloidosis in FMF patients in our study population. 20714796

2011
dbSNP: rs4986791
rs4986791
TLR4
0.010 GeneticVariation BEFREE Neither myeloid cell TLR-2 and TLR-4 expressions nor TLR-2 Arg753Gln, TLR-4 Asp299Gly, and Thr399Ile polymorphisms seem to affect the development of secondary amyloidosis in FMF patients in our study population. 20714796

2011
dbSNP: rs756465037
rs756465037
LTF
0.010 GeneticVariation BEFREE Lactoferrin Glu561Asp facilitates secondary amyloidosis in the cornea. 15923502

2005
dbSNP: rs104895105
rs104895105
MEFV
0.010 GeneticVariation BEFREE A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder? 14679589

2004
dbSNP: rs104895218
rs104895218
TNFRSF1A
0.010 GeneticVariation BEFREE Etanercept may reverse or slow the progression of systemic AA amyloidosis in subjects with C33Y TNFRSF1A mutation. 15316120

2004
dbSNP: rs104895224
rs104895224
TNFRSF1A
0.010 GeneticVariation BEFREE We report a novel mutation (C55S) in TNFRSF1A, resulting in autosomal-dominant periodic fever and AA amyloidosis. 11318938

2001