Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR FMF patients heterozygous for E148Q mutation, heterozygous for M694I mutation, or combined heterozygous for E148Q and M694I mutations, which were found to be major mutations in an FMF study group in Japan, suffer from arthritis, the severity of which is likely to be lower than in FMF patients with M694V mutations. 24318677

2014

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR Patient management and the association of less common familial Mediterranean fever symptoms with other disorders. 23907647

2014

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760

2013

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients. 22037353

2012

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR Disappearance of attacks with one dose of colchicine (1 mg/day) strengthened the presumptive diagnosis of atypical FMF, which was further confirmed by genetic testing identifying the homozygous mutation M694I/M694I of the MEFV gene. 20051664

2010

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR Screening for the M694V mutation of the familial Mediterranean fever (FMF) gene in 604 French patients. 21290976

2010

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever. 19863562

2009

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR Presentation of familial Mediterranean fever in a heterozygous MEFV mutation triggered by immunosuppressive therapy for myelodysplastic syndrome. 19466506

2009

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR Haplotype analysis of 376 Familial Mediterranean Fever (FMF) patients and 100 controls from Lebanon was performed using 4 microsatellite loci to study founder effects for the five most frequent mutations within the MEFV gene (M694V, M694I, V726A, M680I and E148Q). 17711558

2008

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation. 16627024

2007

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations. 16378925

2006

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF). 16730661

2006

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR Here, we report a Japanese female FMF patient with heterozygosity for the compound pyrin E148Q/M694I showing recurrent fever, serositis or delay in skin wound healing. 15805719

2005

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR E148Q/M694I mutation in 3 Japanese patients with familial Mediterranean fever. 15168590

2004

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR Five sequence alterations (M694V, V726A, M680I, M694I and E148Q), in the MEFV gene, account for the majority of FMF chromosomes. 11938447

2002

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR Familial Mediterranean fever in 2 Japanese families. 12064853

2002

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR The genetic basis of autosomal dominant familial Mediterranean fever. 10787449

2000

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever. 10612841

2000

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. 10234504

1999

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation 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: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). 9781020

1998

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR Pyrin/marenostrin mutations in familial Mediterranean fever. 10024914

1998

dbSNP: rs28940578
rs28940578
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
T 0.900 CausalMutation CLINVAR A candidate gene for familial Mediterranean fever. 9288094

1997