Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895083
rs104895083
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.800 GeneticVariation UNIPROT Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. 25628446

2015
dbSNP: rs104895083
rs104895083
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		C 0.800 CausalMutation CLINVAR Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients. 25393764

2015
dbSNP: rs104895083
rs104895083
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.800 GeneticVariation UNIPROT Evidence-based recommendations for the practical management of Familial Mediterranean Fever. 23742958

2013
dbSNP: rs104895083
rs104895083
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		C 0.800 CausalMutation CLINVAR Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations. 20485448

2010
dbSNP: rs104895083
rs104895083
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		C 0.800 CausalMutation CLINVAR Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype-phenotype correlation. 19253030

2010
dbSNP: rs104895083
rs104895083
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		C 0.800 CausalMutation CLINVAR MEFV gene mutations spectrum among Lebanese patients referred for Familial Mediterranean Fever work-up: experience of a major tertiary care center. 17566872

2008
dbSNP: rs104895083
rs104895083
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		C 0.800 CausalMutation CLINVAR Genetic screening of familial Mediterranean fever mutations in the Palestinian population. 15951859

2005
dbSNP: rs104895083
rs104895083
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		C 0.800 CausalMutation CLINVAR An improved electronic microarray-based diagnostic assay for identification of MEFV mutations. 15146467

2004
dbSNP: rs104895083
rs104895083
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		C 0.800 CausalMutation CLINVAR In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H). 9668175

1998