Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895081
rs104895081
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.810 GeneticVariation UNIPROT Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. 25628446

2015
dbSNP: rs104895081
rs104895081
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.810 GeneticVariation UNIPROT Evidence-based recommendations for the practical management of Familial Mediterranean Fever. 23742958

2013
dbSNP: rs104895081
rs104895081
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.810 GeneticVariation BEFREE Besides four synonymous polymorphisms in exon two and five, we found a T267I mutation in one heterozygous patient with a severe case of FMF who should have been designated as compound heterozygous, yet the other genotypes were all accurate. 20485448

2010
dbSNP: rs104895081
rs104895081
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.810 CausalMutation CLINVAR