Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150819742
rs150819742
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR Increased prevalence of MEFV exon 10 variants in Japanese patients with adult-onset Still's disease. 25286988

2015
dbSNP: rs150819742
rs150819742
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR A genetic examination disclosed compound heterozygous MEFV mutations (E84K, P369S), and familial Mediterranean fever was diagnosed. 26027984

2015
dbSNP: rs150819742
rs150819742
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR Acute pericarditis as the first manifestation of familial Mediterranean fever: a possible relationship with idiopathic recurrent pericarditis. 25088882

2014
dbSNP: rs150819742
rs150819742
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR Familial Mediterranean fever: genotype-phenotype correlations in Japanese patients. 24797171

2014
dbSNP: rs150819742
rs150819742
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations. 25261100

2014
dbSNP: rs150819742
rs150819742
MEFV
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		T 0.700 CausalMutation CLINVAR In our 12 FMF patients, we detected the substitutions E84K, L110P, E148Q, R761H and M694I. 18328141

2008