rs3743930, MEFV

N. diseases: 43
Disease: Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome
CUI: C4082167
Disease: Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome
0.010 GeneticVariation BEFREE Genetic testing results of genomic DNA for periodic fever syndromes were negative, although she was heterozygous for p.Glu148Gln variation in MEFV, supporting the diagnosis of PFAPA syndrome. 24289199 2016