Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895080
rs104895080
MEFV
CUI: C3889979
Disease: Periodic Fever Syndrome
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