rs28940578, MEFV

N. diseases: 16
Disease: Systemic amyloidosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Systemic amyloidosis
CUI: C0268380
Disease: Systemic amyloidosis
0.010 GeneticVariation BEFREE One patient was homozygous for E148Q, the patient with systemic amyloidosis was a homozygote for M694I and 4 patients from 3 families were compound heterozygotes for E148Q and M694I. 18328141 2008