Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61732874
rs61732874
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.820 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: rs61732874
rs61732874
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.820 GeneticVariation CLINVAR Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations. 27659338

2016
dbSNP: rs61732874
rs61732874
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.820 CausalMutation CLINVAR MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever. 21246368

2012
dbSNP: rs61732874
rs61732874
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.820 GeneticVariation CLINVAR Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population. 22019805

2011
dbSNP: rs61732874
rs61732874
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.820 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
dbSNP: rs61732874
rs61732874
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.820 GeneticVariation CLINVAR Guidelines for the genetic diagnosis of hereditary recurrent fevers. 22661645

2012
dbSNP: rs61732874
rs61732874
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.820 GeneticVariation CLINVAR MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study. 19934083

2010
dbSNP: rs61732874
rs61732874
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.820 GeneticVariation CLINVAR R202Q/M694V as novel MEFV gene mutations in chronic periodontitis and familial Mediterranean fever. 28590056

2017
dbSNP: rs61732874
rs61732874
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		A 0.820 GeneticVariation CLINVAR MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever. 19863562

2009
dbSNP: rs61732874
rs61732874
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.820 GeneticVariation UNIPROT