rs104895080, MEFV

N. diseases: 3
Disease: Periodic Fever Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Periodic Fever Syndrome
CUI: C3889979
Disease: Periodic Fever Syndrome
0.010 GeneticVariation BEFREE One patient with HIDS and FMF presented with atypical overlapping PFS clinical manifestations and genetic evaluation showed a unique combination of p.I268T/p.V377I MVK mutations and p.E230K/-MEFV variant. 24233262 2014