Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3743930
rs3743930
0.040 GeneticVariation BEFREE None of our patients had amyloidosis but two with E148Q/E148Q had a family history of amyloidosis and one had rapidly progressive glomerulonephritis secondary to vasculitis, which progressed to chronic renal failure. 15458961

2005

dbSNP: rs3743930
rs3743930
0.040 GeneticVariation BEFREE In our series, there were no cases of amyloidosis in 16 patients carrying the common mutation E148Q. 10799634

2000

dbSNP: rs3743930
rs3743930
0.040 GeneticVariation BEFREE We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. 11029479

2000

dbSNP: rs3743930
rs3743930
0.040 GeneticVariation BEFREE The E148Q variant of MEFV was present in two of the three patients with TNF receptor-associated periodic syndrome (TRAPS) complicated by amyloid in two separate multiplex TRAPS families containing 5 and 16 affected members respectively, and the single patient with Muckle-Wells syndrome who had amyloidosis was homozygous for this variant. 15071491

2004