rs28940578, MEFV

N. diseases: 16
Disease: Primary Systemic Amyloidosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary Systemic Amyloidosis
CUI: C0281479
Disease: Primary 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