Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs780770024
rs780770024
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.700 GeneticVariation CLINVAR Patient management and the association of less common familial Mediterranean fever symptoms with other disorders. 23907647

2014
dbSNP: rs780770024
rs780770024
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.700 GeneticVariation CLINVAR Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients. 22037353

2012
dbSNP: rs780770024
rs780770024
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.700 GeneticVariation CLINVAR Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice. 21600797

2011
dbSNP: rs780770024
rs780770024
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.700 GeneticVariation CLINVAR "Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a ""heterozygote advantage"" in Turkey?" 21413889

2011
dbSNP: rs780770024
rs780770024
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.700 GeneticVariation CLINVAR Screening for the M694V mutation of the familial Mediterranean fever (FMF) gene in 604 French patients. 21290976

2010
dbSNP: rs780770024
rs780770024
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.700 GeneticVariation CLINVAR [Familial Mediterranean Fever (FMF): from diagnosis to treatment]. 15745878

2005
dbSNP: rs780770024
rs780770024
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.700 GeneticVariation CLINVAR The spectrum of Familial Mediterranean Fever (FMF) mutations. 11464238

2001
dbSNP: rs780770024
rs780770024
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.700 GeneticVariation CLINVAR MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. 10364520

1999
dbSNP: rs780770024
rs780770024
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.700 GeneticVariation CLINVAR Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). 9781020

1998
dbSNP: rs780770024
rs780770024
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.700 GeneticVariation CLINVAR Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. 9288758

1997