Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895091
rs104895091
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration. 27150194

2017
dbSNP: rs104895091
rs104895091
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment. 25760918

2016
dbSNP: rs104895091
rs104895091
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR Genetics of monogenic autoinflammatory diseases: past successes, future challenges. 21727933

2011
dbSNP: rs104895091
rs104895091
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR Familial Mediterranean fever with a single MEFV mutation: where is the second hit? 19479870

2009
dbSNP: rs104895091
rs104895091
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever. 19863562

2009
dbSNP: rs104895091
rs104895091
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR Clinical and molecular diagnosis of Familial Mediterranean Fever in Egyptian children. 17592559

2007
dbSNP: rs104895091
rs104895091
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR Genetic screening of familial Mediterranean fever mutations in the Palestinian population. 15951859

2005
dbSNP: rs104895091
rs104895091
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR Multiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by LightCycler real-time PCR. 16120953

2005
dbSNP: rs104895091
rs104895091
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects. 15018633

2004
dbSNP: rs104895091
rs104895091
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR The spectrum of Familial Mediterranean Fever (FMF) mutations. 11464238

2001
dbSNP: rs104895091
rs104895091
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR The genetic basis of autosomal dominant familial Mediterranean fever. 10787449

2000
dbSNP: rs104895091
rs104895091
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. 10090880

1999
dbSNP: rs104895091
rs104895091
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). 9668175

1998
dbSNP: rs104895091
rs104895091
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR Pyrin/marenostrin mutations in familial Mediterranean fever. 10024914

1998