rs28940578, MEFV

N. diseases: 16
Disease: Autoinflammatory Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autoinflammatory Syndrome
CUI: C3890737
Disease: Autoinflammatory Syndrome
0.010 GeneticVariation BEFREE Extensive genetic testing revealed that the patient was heterozygous for both TNFRSF1A p.R92Q and MEFV p.M694I mutations leading to an autoinflammatory syndrome characterized by amyloid deposition as the sole manifestation. 23461592 2013